Maternal inheritance and the evaluation of oxidative phosphorylation diseases

Lancet

Volumn 348, Issue 9037, 1996, Pages 1283-1288

  Shoffner, John M ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

BIOCHEMISTRY; CEREBELLAR ATAXIA; CONGENITAL HEART MALFORMATION; DIABETES MELLITUS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXTERNAL OPHTHALMOPLEGIA; EXTRACHROMOSOMAL INHERITANCE; GENE MUTATION; GENETICS; HEARING IMPAIRMENT; HUMAN; KEARNS SAYRE SYNDROME; LEIGH DISEASE; MELAS SYNDROME; MERRF SYNDROME; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

EID: 0030577222     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(96)09138-6     Document Type: Review

References (35)

1. Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia, and complete heart block. Unusual syndrome with histological study in one of two cases. Arch Ophthalmol. 60:1958;280-289.
2. Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. J Clin Invest. 41:1962;1776-1804.
3. Holt IJ, Harding AE, Morgan HJA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 331:1988;717-719.
4. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 242:1988;1427-1430.
5. Wallace DC, Lott MT, Brown MD, Huoponen K, Torroni A, eds. Report of the committee on human mitochondrial DNA. Baltimore: Johns Hopkins University Press, 1995.
6. Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature. 339:1989;309-311.
7. Suomalainen A, Kaukonen J, Amati P, et al. An autosomal dominant locus predisposing to deletions of mitochondrial DNA. Nat Genet 1995; 9: 146-51.
8. Bourgeron T, Rustin P, Chretien D, et al. Mutation of a nuclear succinate dehydrogenase gene results in a mitochondrial respiratory chain deficiency. Nat Genet. 11:1995;144-149.
9. Shoffner JM, Wallace DC. Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill Information Services Company, 1995: 1535-610.
10. Shoffner JM, Voljavec AS, Dixon J, Kaufman A, Wallace DC, Mitch WE. Renal aminoacid transport in adults with oxidative phosphorylation diseases. Kidney Int. 47:1995;1101-1107.
11. Stadhoulders A, Jap P, Walliman TH. Biochemical nature of mitochondrial crystals. J Neurol Sci. 98:(suppl):1990;304-305.
12. Zheng XX, Shoffner JM, Voljavec AS, Wallace DC. Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies. Biochim Biophys Acta. 1019:1990;1-10.
13. Poulton J, Deadman ME, Gardiner RM. Tandem direct duplications of mitochondrial DNA in mitochondrial myopathy: analysis of nucleotide sequence and tissue distribution. Nucl Acids Res. 17:1989;10223-10229.
14. Poulton J, Deadman ME, Bindoff L, Morten K, Land J, Brown G. Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form. Hum Mol Genet. 2:1993;23-30.
15. Wallace DC, Lott MT, Torroni A, Brown MD, Shoffner JM. Report of the committee on human mitochondrial DNA. In: Cuticchia AJ, Pearson PL, eds. Human gene mapping. Baltimore: Johns Hopkins University Press, 1994: 813-45.
16. Shoffner JM, Bialer MG, Pavlakis SG, et al. Mitochondrial encephalomyopathy caused by a single nucleotide deletion in the mitochondrial tRNA-Leucine(UUR) gene. Neurology. 45:1995;286-292.
17. Holt IJ, Harding AE, Cooper JM, et al. Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann Neurol. 26:1989;699-708.
18. Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med. 320:1989;1293-1299.
19. Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell. 61:1990;931-937.
20. Wallace DC, Zheng XX, Lott MT, et al. Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell. 55:1988;601-610.
21. Silvestri G, Moraes CT, Shanske S, Oh SJ, DiMauro S. A new mutation in the tRNA-Lys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet. 51:1992;1213-1217.
22. Zeviani ML, Muntoni F, Savarese N, et al. AMERRF/MELAS overlap syndrome associated with new point mutation of mitochondrial DNAtRNA-Lys gene. Eur J Hum Genet. 1:1993;80-87.
23. Van den Ouweland JMW, Lemkes HHPJ, Ruitenbeek W, et al. Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet. 1:1992;368-371.
24. Otabe S, Sakura H, Shimokawa K, et al. The high prevalence of the diabetic patients with a mutation in the mitochondrial gene in Japan. J Clin Endocrinol Metab. 79:1994;768-771.
25. Goto Y-i, Tsugane K, Tanabe Y, Nonaka I, Horai S. A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA-Leu(UUR) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem Biophys Res Commun. 202:1994;1624-1630.
26. Goto Y-i, Nonaka I, Horai S. A new mutation in the tRNA-Leu(UUR) gene associated with mitochondrial myopathy, lactic acidosis, and stroke-like episodes. Biochim Biophys Acta. 1097:1991;238-240.
27. Sato W, Hayasaka K, Shoji Y, et al. A mitochondrial tRNA-Leu(UUR) mutation at 3256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like symptoms. Biochem Mol Biol Int. 33:1994;1055-1061.
28. Morten KJ, Cooper JM, Brown GK, Lake BD, Pike D, Poulton J. A new point mutation associated with mitochondrial encephalomyopathy. Hum Molec Genet. 2:1993;2081-2087.
29. Shoffner JM, Fernhoff PM, Krawiecki NS, et al. Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. Neurology. 42:1992;2168-2174.
30. Tatuch Y, Christodoulou J, Feigenbaum A, et al. Heteroplasmic mitochondrial DNA mutation (T toG) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet. 50:1992;852-858.
31. Santorelli FM, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S. A T to C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology. 44:1994;972-974.
32. Trounce I, Neill S, Wallace D. Cytoplasmic transfer of the mtDNA nt 8993 T to G (ATP 6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state II respiration and ADP/O ratio. Proc Natl Acad Sci USA. 91:1994;8334-8338.
33. Tatuch Y, Pagon RA, Vlcek B, Roberts R, Korson M, Robinson BH. The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families. Eur J Hum Genet. 2:1994;35-43.
34. Holt IJ, Harding AE, Petty RK, Morgan HJA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet. 46:1990;428-433.
35. Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol. 34:1993;827-834.