-
1
-
-
18544387713
-
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome
-
Shanske S, Tang Y, Hirano M, et al. Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome. Am J Hum Genet 2002; 71:679-683. This work demonstrates that, although the vast majority of single large-scale deletions in mitochondrial DNA are sporadic, in rare cases, single deletions can be transmitted through the germline.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 679-683
-
-
Shanske, S.1
Tang, Y.2
Hirano, M.3
-
2
-
-
0037158599
-
Paternal inheritance of mtDNA
-
Schwartz M, Vissing J. Paternal inheritance of mtDNA. N Engl J Med 2002; 347:576-580.
-
(2002)
N Engl J Med
, vol.347
, pp. 576-580
-
-
Schwartz, M.1
Vissing, J.2
-
3
-
-
0030951244
-
Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice
-
Jenuth JP, Peterson AC, Shoubridge EA. Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat Genet 1997; 16:93-95.
-
(1997)
Nat Genet
, vol.16
, pp. 93-95
-
-
Jenuth, J.P.1
Peterson, A.C.2
Shoubridge, E.A.3
-
4
-
-
0037313092
-
Nuclear genetic control of mitochondrial DNA segregation
-
Battersby BB, Loredo-Osti JC, Shoubridge EA. Nuclear genetic control of mitochondrial DNA segregation. Nat Genet 2003; 33:183-186. This provides the first genetic evidence for nuclear control of mammalian mitochondrial DNA segregation.
-
(2003)
Nat Genet
, vol.33
, pp. 183-186
-
-
Battersby, B.B.1
Loredo-Osti, J.C.2
Shoubridge, E.A.3
-
5
-
-
0019978703
-
Replication of animal mitochondrial DNA
-
Clayton DA. Replication of animal mitochondrial DNA. Cell 1982; 28:693-705.
-
(1982)
Cell
, vol.28
, pp. 693-705
-
-
Clayton, D.A.1
-
6
-
-
0034598918
-
Coupled leading- And lagging-strand synthesis of mammalian mitochondrial DNA
-
Holt IJ, Lorimer HE, Jacobs HT. Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA. Cell 2000; 100:515-524.
-
(2000)
Cell
, vol.100
, pp. 515-524
-
-
Holt, I.J.1
Lorimer, H.E.2
Jacobs, H.T.3
-
7
-
-
0037112343
-
Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication
-
Yang MY, Bowmaker M, Reyes A, et al. Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication. Cell 2002; 111:495-505. According to these studies, mammalian mitochondrial DNA replication proceeds mainly, or exclusively, by a strand-coupled mechanism. This model is alternative to the currently acknowledged standard model, which is based on a strand-lagging, asymmetric mechanism of mtDNA replication.
-
(2002)
Cell
, vol.111
, pp. 495-505
-
-
Yang, M.Y.1
Bowmaker, M.2
Reyes, A.3
-
8
-
-
18544393317
-
A collection of 33 novel human mtDNA homoplasmic variants
-
Crimi M, Sciacco M, Galbiati S, et al. A collection of 33 novel human mtDNA homoplasmic variants. Hum Mutat 2002; 20:409.
-
(2002)
Hum Mutat
, vol.20
, pp. 409
-
-
Crimi, M.1
Sciacco, M.2
Galbiati, S.3
-
9
-
-
0036135162
-
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations
-
Corona P, Lamantea E, Greco M, et al. Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. Ann Neurol 2002; 51:118-122.
-
(2002)
Ann Neurol
, vol.51
, pp. 118-122
-
-
Corona, P.1
Lamantea, E.2
Greco, M.3
-
10
-
-
0036279552
-
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA
-
Sacconi S, Salviati L, Gooch C, et al. Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA. Arch Neurol 2002; 59:1013-1015.
-
(2002)
Arch Neurol
, vol.59
, pp. 1013-1015
-
-
Sacconi, S.1
Salviati, L.2
Gooch, C.3
-
11
-
-
0036194222
-
Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation
-
Schuelke M, Krude H, Finckh B, et al. Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation. Ann Neurol 2002; 51:388-392.
-
(2002)
Ann Neurol
, vol.51
, pp. 388-392
-
-
Schuelke, M.1
Krude, H.2
Finckh, B.3
-
12
-
-
0036132671
-
A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III
-
Lamantea E, Carrara F, Mariotti C, et al. A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III. Neuromuscul Disord 2002; 12:49-52.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 49-52
-
-
Lamantea, E.1
Carrara, F.2
Mariotti, C.3
-
13
-
-
0036837220
-
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315a mutation in mitochondrial DNA
-
Karadimas CL, Salviati L, Sacconi S, et al. Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA. Neuromuscul Disord 2002; 12:865-868.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 865-868
-
-
Karadimas, C.L.1
Salviati, L.2
Sacconi, S.3
-
14
-
-
0036787013
-
A novel mitochondrial DNA tRNA(IIe) (A4267G) mutation in a sporadic patient with mitochondrial myopathy
-
Taylor RW, Schaefer AM, McFarland R, et al. A novel mitochondrial DNA tRNA(IIe) (A4267G) mutation in a sporadic patient with mitochondrial myopathy. Neuromuscul Disord 2002; 12:659-664.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 659-664
-
-
Taylor, R.W.1
Schaefer, A.M.2
McFarland, R.3
-
15
-
-
0037315780
-
Mutation screening in patients with isolated cytochrome c oxidase deficiency
-
Sacconi S, Salviati L, Sue CM, et al. Mutation screening in patients with isolated cytochrome c oxidase deficiency. Pediatr Res 2003; 53:224-230.
-
(2003)
Pediatr Res
, vol.53
, pp. 224-230
-
-
Sacconi, S.1
Salviati, L.2
Sue, C.M.3
-
16
-
-
0036487995
-
The role of mtDNA background in disease expression: A new primary LHON mutation associated with Western Eurasian haplogroup
-
Brown MD, Starikovskaya E, Derbeneva O, et al. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. Hum Genet 2002; 110:130-138.
-
(2002)
J. Hum Genet
, vol.110
, pp. 130-138
-
-
Brown, M.D.1
Starikovskaya, E.2
Derbeneva, O.3
-
17
-
-
0036229268
-
Mitochondrial DNA C4171A/ND1 is a novel mutation of Leber's hereditary optic neuropathy with good prognosis
-
Kim JY, Hwang J-M, Park SS. Mitochondrial DNA C4171A/ND1 is a novel mutation of Leber's hereditary optic neuropathy with good prognosis. Ann Neurol 2002; 51:630-634.
-
(2002)
Ann Neurol
, vol.51
, pp. 630-634
-
-
Kim, J.Y.1
Hwang, J.-M.2
Park, S.S.3
-
18
-
-
0036260961
-
Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy
-
Valentino ML, Avoni P, Barboni P, et al. Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy. Ann Neurol 2002; 51:774-778.
-
(2002)
Ann Neurol
, vol.51
, pp. 774-778
-
-
Valentino, M.L.1
Avoni, P.2
Barboni, P.3
-
19
-
-
0036396123
-
Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy
-
Fauser S, Leo-Kottler B, Besch D, Luberichs J. Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy. Ophthalmic Genet 2002; 23:191-7. There are seven mutations in the ND6 gene leading to LHON. All seven identified mutations in the gene lie within the evolutionarily most conserved region in a Hydrophobic pocket making it a hot spot for the disease. This clustering of mutations may help to understand the disease mechanism of LHON.
-
(2002)
Ophthalmic Genet
, vol.23
, pp. 191-197
-
-
Fauser, S.1
Leo-Kottler, B.2
Besch, D.3
Luberichs, J.4
-
20
-
-
0037406049
-
Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction
-
Carelli V, Giordano C, d'Amati G. Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. Trends Genet 2003; 19:257-262.
-
(2003)
Trends Genet
, vol.19
, pp. 257-262
-
-
Carelli, V.1
Giordano, C.2
D'Amati, G.3
-
21
-
-
0036478952
-
Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation
-
McFarland R, Clark KM, Morris AA, et al. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nat Genet 2002; 30:145-146. This family highlights the role of homoplasmic mitochondrial transfer RNA mutations in genetic disease. The surprising findings from this family are not the multiple affected siblings generated by the mutant mother, but her virtual absence of clinical symptoms. Obviously, very strong compensatory effects and factors can dictate the final outcome of different individuals, all presenting the same type and amount of mutation.
-
(2002)
Nat Genet
, vol.30
, pp. 145-146
-
-
McFarland, R.1
Clark, K.M.2
Morris, A.A.3
-
22
-
-
0036714966
-
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy
-
Funalot B, Reynier P, Vighetto A, et al. Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. Ann Neurol 2002; 52:374-377.
-
(2002)
Ann Neurol
, vol.52
, pp. 374-377
-
-
Funalot, B.1
Reynier, P.2
Vighetto, A.3
-
23
-
-
85047699579
-
Leigh disease associated with a novel mitochondrial DNA ND5 mutation
-
Taylor RW, Morris AA, Hutchinson M, et al. Leigh disease associated with a novel mitochondrial DNA ND5 mutation. Eur J Hum Genet 2002; 10:141-144.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 141-144
-
-
Taylor, R.W.1
Morris, A.A.2
Hutchinson, M.3
-
24
-
-
18744412927
-
Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene
-
Horvath R, Scharfe C, Hoeltzenbein M, et al. Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. J Med Genet 2002; 39:812-816.
-
(2002)
J Med Genet
, vol.39
, pp. 812-816
-
-
Horvath, R.1
Scharfe, C.2
Hoeltzenbein, M.3
-
25
-
-
0037337347
-
The mitochondrial DNA G13513a MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency
-
Chol M, Lebon S, Benit P, et al. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet 2003; 40:188-191. Infants presented a peculiar magnetic resonance imaging aspect showing specific involvement of the substantia nigra and medulla oblongata but sparing the basal ganglia. It appears that the G13513A mutation represents a frequent cause of Leigh-like syndrome, which should be systematically tested.
-
(2003)
J Med Genet
, vol.40
, pp. 188-191
-
-
Chol, M.1
Lebon, S.2
Benit, P.3
-
26
-
-
0037417764
-
The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacytation
-
Park H, Davidson E, King MP. The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacytation. Biochemistry 2003; 42:958-964.
-
(2003)
Biochemistry
, vol.42
, pp. 958-964
-
-
Park, H.1
Davidson, E.2
King, M.P.3
-
27
-
-
0037011177
-
Taurine as a constituent of mitochondrial tRNAs: New insights into the functions of taurine and human mitochondrial diseases
-
Suzuki T, Suzuki T, Wada T, et al. Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases. EMBO J 2002; 21:6581-6589. Although taurine is involved in a variety of processes in humans, it has never been found as a component of a protein or a nucleic acid, and its precise biochemical functions are not fully understood. This is the first reported evidence that taurine is a constituent of biological macromolecules, unveiling the prospect of obtaining new insights into the functions and subcellular localization of this abundant amino acid.
-
(2002)
EMBO J
, vol.21
, pp. 6581-6589
-
-
Suzuki, T.1
Suzuki, T.2
Wada, T.3
-
28
-
-
0346666699
-
The yeast counterparts of human 'MELAS' mutations cause mitochondrial dysfunction that can be rescued by overexpression of the mitochondrial translation factor EF-Tu
-
Feuermann M, Francisci S, Rinaldi T, et al. The yeast counterparts of human 'MELAS' mutations cause mitochondrial dysfunction that can be rescued by overexpression of the mitochondrial translation factor EF-Tu. EMBO Rep 2003; 4:53-58. This study supports the possibility to use yeast as a means to validate the pathogenicity of human transfer RNA mutations in vivo. Interestingly, all defective phenotypes returned to normal when the mutant cells were transformed by multicopy plasmids carrying the gene encoding the mitochondrial elongation factor EF-Tu.
-
(2003)
EMBO Rep
, vol.4
, pp. 53-58
-
-
Feuermann, M.1
Francisci, S.2
Rinaldi, T.3
-
29
-
-
0037423202
-
Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium
-
Ghelli A, Zanna C, Porcelli AM, et al. Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium. J Biol Chem 2003; 278:4145-4150.
-
(2003)
J Biol Chem
, vol.278
, pp. 4145-4150
-
-
Ghelli, A.1
Zanna, C.2
Porcelli, A.M.3
-
30
-
-
0037084559
-
Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells
-
Wong A, Cavelier L, Collins-Schram HE, et al. Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells. Hum Mol Genet 2002; 11:431-438.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 431-438
-
-
Wong, A.1
Cavelier, L.2
Collins-Schram, H.E.3
-
31
-
-
0037310673
-
Suppression of complex I gene expression induces optic neuropathy
-
Qi X, Lewin AS, Hauswirth WW, Guy J. Suppression of complex I gene expression induces optic neuropathy. Ann Neurol 2003; 53:198-205. The ribozyme-induced suppression of a nuclear-encoded subunit gene of complex I (NDUFA1) led to axonal destruction and demyelination, the hallmarks of Leber hereditary optic neuropathy.
-
(2003)
Ann Neurol
, vol.53
, pp. 198-205
-
-
Qi, X.1
Lewin, A.S.2
Hauswirth, W.W.3
Guy, J.4
-
32
-
-
0037337634
-
Optic neuropathy induced by reductions in mitochondrial superoxide dismutase
-
Qi X, Lewin AS, Hauswirth WW, Guy J. Optic neuropathy induced by reductions in mitochondrial superoxide dismutase. Invest Ophthalmol Vis Sci 2003; 44:1088-1096. The striking similarity of the optic neuropathy to the histopathology of LHON is powerful evidence supporting reactive oxygen species as a key factor in the pathogenesis of LHON.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 1088-1096
-
-
Qi, X.1
Lewin, A.S.2
Hauswirth, W.W.3
Guy, J.4
-
33
-
-
0036182712
-
Optic nerve degeneration and mitochondrial dysfunction: Genetic and acquired optic neuropathies
-
Carelli V, Ross-Cisneros FN, Sadun AA. Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies. Neurochem Int 2002; 40:573-584.
-
(2002)
Neurochem Int
, vol.40
, pp. 573-584
-
-
Carelli, V.1
Ross-Cisneros, F.N.2
Sadun, A.A.3
-
34
-
-
0037069398
-
Increased mitochondrial mass in mitochondrial myopathy mice
-
Wredenberg A, Wibom R, Wilhelmsson H, et al. Increased mitochondrial mass in mitochondrial myopathy mice. Proc Natl Acad Sci U S A 2002; 99:15066-15071. Surprisingly, fatigue development did not occur more rapidly in myopathy mice, suggesting that overall ATP production is sufficient. However, there were lower absolute muscle forces in the myopathy mice, especially at low stimulation frequencies. Thus, both biochemical measurements of ATP-production rate and in-vitro physiological studies suggest that reduced mitochondrial ATP production might not be as critical for the pathophysiology of mitochondrial myopathy as thought previously.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 15066-15071
-
-
Wredenberg, A.1
Wibom, R.2
Wilhelmsson, H.3
-
35
-
-
0037322524
-
The epidemiology of Leber hereditary optic neuropathy in the North East of England
-
Man PY, Griffiths PG, Brown DT, et al. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet 2003; 72:333-339. This paper indicates that LHON is not rare but has population prevalence similar to autosomally inherited neurological disorders.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 333-339
-
-
Man, P.Y.1
Griffiths, P.G.2
Brown, D.T.3
-
36
-
-
0037314931
-
The spectrum of exercise tolerance in mitochondrial myopathies: A study of 40 patients
-
Taivassalo T, Jensen TD, Kennaway N, et al. The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients. Brain 2003; 126:413-423. The degree of exercise intolerance in mitochondrial myopathy seems to correlate directly with the severity of impaired muscle oxidative phosphorylation, and the muscle mutation load appears to govern mitochondrial capacity for oxidative phosphorylation and determine exercise capacity.
-
(2003)
Brain
, vol.126
, pp. 413-423
-
-
Taivassalo, T.1
Jensen, T.D.2
Kennaway, N.3
-
37
-
-
0037299943
-
Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells
-
Lynn S, Borthwick GM, Charnley RM, et al. Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells. Diabetologia 2003; 46:296-299.
-
(2003)
Diabetologia
, vol.46
, pp. 296-299
-
-
Lynn, S.1
Borthwick, G.M.2
Charnley, R.M.3
-
38
-
-
0037223893
-
A 14-year-old male with asymptomatic proteinuria and hearing loss
-
Nasr SH, Corey H, Shanske S, et al. A 14-year-old male with asymptomatic proteinuria and hearing loss. Am J Kidney Dis 2003; 41:259-264.
-
(2003)
Am J Kidney Dis
, vol.41
, pp. 259-264
-
-
Nasr, S.H.1
Corey, H.2
Shanske, S.3
-
39
-
-
18444373246
-
Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation
-
Giordano C, Pallotti F, Walker WF, et al. Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation. Biochem Biophys Res Commun 2002; 293:521-529.
-
(2002)
Biochem Biophys Res Commun
, vol.293
, pp. 521-529
-
-
Giordano, C.1
Pallotti, F.2
Walker, W.F.3
-
40
-
-
0036823733
-
Cardiomyopathy associated with neurologic disorders and mitochondrial phenotype
-
Marin-Garcia J, Goldenthal MJ, Filiano JJ. Cardiomyopathy associated with neurologic disorders and mitochondrial phenotype. J Child Neurol 2002; 17:759-765.
-
(2002)
J Child Neurol
, vol.17
, pp. 759-765
-
-
Marin-Garcia, J.1
Goldenthal, M.J.2
Filiano, J.J.3
-
41
-
-
0037015695
-
Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size
-
Gellerich FN, Deschauer M, Chen Y, et al. Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size. Biochim Biophys Acta 2002; 1556:41-52.
-
(2002)
Biochim Biophys Acta
, vol.1556
, pp. 41-52
-
-
Gellerich, F.N.1
Deschauer, M.2
Chen, Y.3
-
42
-
-
0037069274
-
Mitochondrial disorders: A proposal for consensus diagnostic criteria in infants and children
-
Wolf NI, Smeitink JA. Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children. Neurology 2002; 59:1402-1405. The proposed classification allows more precise definition of clinical and metabolic items and the independent scoring of muscle biochemical investigations before combining all findings to determine the overall diagnostic certainty.
-
(2002)
Neurology
, vol.59
, pp. 1402-1405
-
-
Wolf, N.I.1
Smeitink, J.A.2
-
44
-
-
0036523991
-
CIA30 complex I assembly factor: A candidate for human complex I deficiency?
-
Janssen R, Smeitink J, Smeets R, van Den Heuvel L. CIA30 complex I assembly factor: a candidate for human complex I deficiency? Hum Genet 2002; 110:264-270.
-
(2002)
Hum Genet
, vol.110
, pp. 264-270
-
-
Janssen, R.1
Smeitink, J.2
Smeets, R.3
Van Den Heuvel, L.4
-
45
-
-
0037122936
-
Inborn errors of complex II: Unusual human mitochondrial diseases
-
Rustin P, Rotig A. Inborn errors of complex II: unusual human mitochondrial diseases. Biochim Biophys Acta 2002; 1553:117-122.
-
(2002)
Biochim Biophys Acta
, vol.1553
, pp. 117-122
-
-
Rustin, P.1
Rotig, A.2
-
46
-
-
0037046659
-
Germ-line mutations in nonsyndromic phaeochromocytoma
-
Neumann HP, Bausch B, McWhinney SR, et al. Germ-line mutations in nonsyndromic phaeochromocytoma. N Engl J Med 2002; 346:1459-1466.
-
(2002)
N Engl J Med
, vol.346
, pp. 1459-1466
-
-
Neumann, H.P.1
Bausch, B.2
McWhinney, S.R.3
-
47
-
-
0036774422
-
Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma
-
Gimenez-Roqueplo AP, Favier J, Rustin P, et al. Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. J Clin Endocrinol Metab 2002; 87:4771-4774.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4771-4774
-
-
Gimenez-Roqueplo, A.P.1
Favier, J.2
Rustin, P.3
-
48
-
-
18544365990
-
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
-
Tomlinson IP, Alam NA, Rowan AJ, et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002; 30:406-410. The gene acts as a typical tumor suppressor, with loss of the functional allele occurring in benign smooth muscle tumors and renal cell cancer. This finding is of obvious importance in view of the high incidence and associated morbidity of uterine fibroids, which account for nearly 25% of all healthcare-related expenditure in Western gynecology departments.
-
(2002)
Nat Genet
, vol.30
, pp. 406-410
-
-
Tomlinson, I.P.1
Alam, N.A.2
Rowan, A.J.3
-
49
-
-
0036895391
-
Coenzyme Q-responsive Leigh's encephalopathy in two sisters
-
Van Maldergem L, Trijbels F, DiMauro S, et al. Coenzyme Q-responsive Leigh's encephalopathy in two sisters. Ann Neurol 2002; 52:750-754.
-
(2002)
Ann Neurol
, vol.52
, pp. 750-754
-
-
Van Maldergem, L.1
Trijbels, F.2
DiMauro, S.3
-
50
-
-
19044365959
-
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
-
Visapaa I, Fellman V, Vesa J, et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet 2002; 71:863-876. A defect in complex III was found in several, but not in all the GRACILE patients examined in this study, suggesting that BCS1L may have an additional cellular function, possibly involved in iron metabolism. This controversial hypothesis remains to be proven.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 863-876
-
-
Visapaa, I.1
Fellman, V.2
Vesa, J.3
-
51
-
-
0037080769
-
Shylp is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome
-
Barrientos A, Korr D, Tzagoloff A. Shylp is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome. EMBO J 2002; 21:43-52.
-
(2002)
EMBO J
, vol.21
, pp. 43-52
-
-
Barrientos, A.1
Korr, D.2
Tzagoloff, A.3
-
52
-
-
0037440750
-
Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice
-
Agostino A, Invernizzi F, Tiveron C, et al. Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. Hum Mol Genet 2003; 12:399-413. This is the first mammalian knockout model for a nuclear gene responsible for a mitochondrial disease in humans. The murine phenotype is characterized by high embryonic and postnatal lethality. Significant deficit in muscle strength and motor performance with profound and isolated defect of COX activity in skeletal muscle was observed in surviving animals. However, no obvious abnormalities were detected in brain, reflecting the absence of overt neurological symptoms. These results indicate a function for murine Surf1 protein specifically related to COX and recapitulate, at least in part, the human phenotype.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 399-413
-
-
Agostino, A.1
Invernizzi, F.2
Tiveron, C.3
-
53
-
-
0036096893
-
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease
-
Salviati L, Sacconi S, Rasalan MM, et al. Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. Arch Neurol 2002; 59:862-865.
-
(2002)
Arch Neurol
, vol.59
, pp. 862-865
-
-
Salviati, L.1
Sacconi, S.2
Rasalan, M.M.3
-
54
-
-
0037090630
-
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations
-
2 to the growth medium. This result suggests a possible therapy for the early treatment of this fatal infantile disease by increasing the intracellular content of copper in critical tissues.
-
(2002)
Biochem J
, vol.363
, pp. 321-327
-
-
Salviati, L.1
Hernandez-Rosa, E.2
Walker, W.F.3
-
55
-
-
0036838080
-
Mammalian copper chaperone Cox17p has an essential role in activation of cytochrome c oxidase and embryonic development
-
Takahashi Y, Kako K, Kashiwabara S, et al. Mammalian copper chaperone Cox17p has an essential role in activation of cytochrome c oxidase and embryonic development. Mol Cell Biol 2002; 22:7614-7621.
-
(2002)
Mol Cell Biol
, vol.22
, pp. 7614-7621
-
-
Takahashi, Y.1
Kako, K.2
Kashiwabara, S.3
-
56
-
-
0037221950
-
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy
-
Antonicka H, Mattman A, Carlson CG, et al. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am J Hum Genet 2003; 72:101-114. This study establishes COX15 as an additional cause, along with SCO2, of fatal infantile, hypertrophic cardiomyopathy associated with isolated COX deficiency.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 101-114
-
-
Antonicka, H.1
Mattman, A.2
Carlson, C.G.3
-
57
-
-
0036327184
-
Mutations of mitochondrial DNA polymerase A are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
-
Lamantea E, Tiranti V, Bordoni A, et al. Mutations of mitochondrial DNA polymerase A are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 2002; 52:211-219. According to this study POLG1 mutations account for approximately 45%, Twinkle mutations for 36% and ANT1 mutations for 7% of the cases. Still unknown genes are responsible for a minor fraction of families in which no mutation in any known candidate gene has been found so far.
-
(2002)
Ann Neurol
, vol.52
, pp. 211-219
-
-
Lamantea, E.1
Tiranti, V.2
Bordoni, A.3
-
58
-
-
0037306061
-
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
-
Van Goethem G, Martin JJ, Dermaut B, et al. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord 2003; 13:133-142.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 133-142
-
-
Van Goethem, G.1
Martin, J.J.2
Dermaut, B.3
-
59
-
-
0037461342
-
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
-
Agostino A, Valletta L, Chinnery PF, et al. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology 2003; 60:1354-1356.
-
(2003)
Neurology
, vol.60
, pp. 1354-1356
-
-
Agostino, A.1
Valletta, L.2
Chinnery, P.F.3
-
60
-
-
0037013234
-
Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis
-
Ponamarev MV, Longley MJ, Nguyen D, et al. Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis. J Biol Chem 2002; 277:15225-15228. This study suggested that mutant DNA polymerase-γ could determine error-prone mitochondrial DNA synthesis in vivo and produce accumulation of mitochondrial DNA mutations in patients with progressive external ophthalmoplegia.
-
(2002)
J Biol Chem
, vol.277
, pp. 15225-15228
-
-
Ponamarev, M.V.1
Longley, M.J.2
Nguyen, D.3
-
61
-
-
0037159255
-
Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA
-
Mancuso M, Salviati L, Sacconi S, et al. Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. Neurology 2002; 59:1197-1202.
-
(2002)
Neurology
, vol.59
, pp. 1197-1202
-
-
Mancuso, M.1
Salviati, L.2
Sacconi, S.3
-
62
-
-
0036714964
-
Mitochondrial DNA depletion and dGK gene mutations
-
Salviati L, Sacconi S, Mancuso M, et al. Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol 2002; 52:311-317.
-
(2002)
Ann Neurol
, vol.52
, pp. 311-317
-
-
Salviati, L.1
Sacconi, S.2
Mancuso, M.3
-
63
-
-
18544374728
-
Altered thymidine metabolism due to defects of thymidine phosphorylase
-
Spinazzola A, Marti R, Nishino I, et al. Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem 2002; 277:4128-4133. The authors of this paper hypothesize that excess thymidine alters mitochondrial nucleoside and nucleotide pools leading to impaired mitochondrial DNA replication, repair, or both. An important corollary to this study is that, in principle, therapies to reduce thymidine levels may be beneficial to mitochondrial neuro- gastro-intestinal encephalomyopathy patients.
-
(2002)
J Biol Chem
, vol.277
, pp. 4128-4133
-
-
Spinazzola, A.1
Marti, R.2
Nishino, I.3
-
64
-
-
0036291870
-
Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice
-
2 maps in the brain and axonal edema was described by electron microscopic. These findings further complicate the pathogenetic interpretation of mitochondrial neuro-gastro-intestinal encephalomyopathy.
-
(2002)
Mol Cell Biol
, vol.22
, pp. 5212-5221
-
-
Haraguchi, M.1
Tsujimoto, H.2
Fukushima, M.3
-
65
-
-
18544382852
-
Mutant deoxynucleotide carrier is associated with congenital microcephaly
-
Rosenberg MJ, Agarwala R, Bouffard G, et al. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet 2002; 32:175-179. These data indicate that mitochondrial deoxynucleotide transport may be essential for fetal brain development. Further investigation will verify whether, as for other conditions due to altered deoxynucleotide metabolism in mitochondria, the central mechanism underlying microcephalia of Amish can be a severe, prenatal depletion or disruption of mitochondrial DNA.
-
(2002)
Nat Genet
, vol.32
, pp. 175-179
-
-
Rosenberg, M.J.1
Agarwala, R.2
Bouffard, G.3
-
66
-
-
0036837666
-
Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria
-
Kelley RI, Robinson D, Puffenberger EG, et al. Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet 2002; 112:318-326. Further investigation will verify whether, as for other conditions due to altered deoxynucleotide metabolism in mitochondria, the central mechanism underlying microcephalia of Amish can be a severe, prenatal depletion or disruption of mitochondrial DNA.
-
(2002)
Am J Med Genet
, vol.112
, pp. 318-326
-
-
Kelley, R.I.1
Robinson, D.2
Puffenberger, E.G.3
-
67
-
-
0036228186
-
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome
-
Schlame M, Towbin JA, Heerdt PM, et al. Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. Ann Neurol 2002; 51:634-637.
-
(2002)
Ann Neurol
, vol.51
, pp. 634-637
-
-
Schlame, M.1
Towbin, J.A.2
Heerdt, P.M.3
-
68
-
-
0036843327
-
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): A study in cultured skin fibroblasts
-
Valianpour F, Wanders RJ, Overmars H, et al. Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. J Pediatr 2002; 141:729-733.
-
(2002)
J Pediatr
, vol.141
, pp. 729-733
-
-
Valianpour, F.1
Wanders, R.J.2
Overmars, H.3
-
69
-
-
0036369531
-
OPA1 (Kjer type) dominant optic atrophy: A novel mitochondrial disease
-
Delettre C, Lenaers G, Pelloquin L, et al. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol Genet Metab 2002; 75:97-107.
-
(2002)
Mol Genet Metab
, vol.75
, pp. 97-107
-
-
Delettre, C.1
Lenaers, G.2
Pelloquin, L.3
-
70
-
-
0037424239
-
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis
-
Olichon A, Baricault L, Gas N, et al. Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. J Biol Chem 2003; 278:7743-7746. This study highlights as apoptotic death of retinal ganglion cells may be a general feature of mitochondrial optic neuropathies, including LHON (see also Ref. [29]).
-
(2003)
J Biol Chem
, vol.278
, pp. 7743-7746
-
-
Olichon, A.1
Baricault, L.2
Gas, N.3
-
71
-
-
12244291215
-
Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes
-
De Lonlay P, Mugnier C, Sanlaville D, et al. Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes. Hum Mol Genet 2002; 11:3273-3281. This functional complementation approach was applied on two cell lines with complex II or complex I+IV defects, allowed the mapping of the disease-causing genes to small intervals (4 and 12 Mb) on chromosomes 12p13 and 7p21, respectively. This approach makes the physical mapping of the disease genes feasible in sporadic cases of OXPHOS deficiency.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 3273-3281
-
-
De Lonlay, P.1
Mugnier, C.2
Sanlaville, D.3
-
72
-
-
0036699060
-
Systematic screen for human disease genes in yeast
-
Steinmetz LM, Scharfe C, Deutschbauer AM, et al. Systematic screen for human disease genes in yeast. Nat Genet 2002; 31:400-404.
-
(2002)
Nat Genet
, vol.31
, pp. 400-404
-
-
Steinmetz, L.M.1
Scharfe, C.2
Deutschbauer, A.M.3
-
73
-
-
0037458031
-
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
-
Mootha VK, Lepage P, Miller K, et al. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci U S A 2003; 100:605-610. By intersecting information derived from RNA expression data sets and a large survey of organellar proteomics with the relevant genomic region, a single clear candidate gene was identified and then proven to be mutated in affected individuals with French-Canadian type Leigh syndrome. LRPPRC (leucine-rich PPR-motif containing protein) encodes a messenger RNA-binding protein likely involved with mitochondrial DNA transcript processing, suggesting an additional mechanism of mitochondrial pathophysiology.
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 605-610
-
-
Mootha, V.K.1
Lepage, P.2
Miller, K.3
-
75
-
-
0036221156
-
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia
-
Hausse AO, Aggoun Y, Bonnet D, et al. Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart 2002; 87:346-349.
-
(2002)
Heart
, vol.87
, pp. 346-349
-
-
Hausse, A.O.1
Aggoun, Y.2
Bonnet, D.3
-
76
-
-
0036694802
-
Friedreich's ataxia: Idebenone treatment in early stage patients
-
Artuch R, Aracil A, Mas A, et al. Friedreich's ataxia: idebenone treatment in early stage patients. Neuropediatrics 2002; 33:190-193.
-
(2002)
Neuropediatrics
, vol.33
, pp. 190-193
-
-
Artuch, R.1
Aracil, A.2
Mas, A.3
-
77
-
-
0036544631
-
Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus
-
Manfredi G, Fu J, Ojaimi J, et al. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nat Genet 2002; 30:394-399.
-
(2002)
Nat Genet
, vol.30
, pp. 394-399
-
-
Manfredi, G.1
Fu, J.2
Ojaimi, J.3
-
78
-
-
0036829072
-
Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy
-
Guy J, Qi X, Pallotti F, et al. Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy. Ann Neurol 2002; 52:529-530. A synthetic ND4 subunit compatible with the 'universal' genetic code containing a mitochondrial 'leader peptide' was expressed in cybrids harboring the G11778A mutation. The recombinant protein was able to enter the organelles and induce a threefold increase in ATP synthesis, to a level indistinguishable from that in cybrids containing normal mitochondrial DNA.
-
(2002)
Ann Neurol
, vol.52
, pp. 529-530
-
-
Guy, J.1
Qi, X.2
Pallotti, F.3
-
79
-
-
0036420547
-
Gene therapy for mitochondrial disease by delivering restriction endonuclease Smal into mitochondria
-
Tanaka M, Borgeld HJ, Zhang J. Gene therapy for mitochondrial disease by delivering restriction endonuclease Smal into mitochondria. J Biomed Sci 2002; 9:534-541. The elimination of the mutant mitochondrial DNA species was followed by restoration of both the normal intracellular ATP level and normal mitochondrial membrane potential. Delivery of restriction enzymes into mitochondria is a novel strategy for gene therapy in selected cases of mitochondrial disease
-
(2002)
J Biomed Sci
, vol.9
, pp. 534-541
-
-
Tanaka, M.1
Borgeld, H.J.2
Zhang, J.3
|