Disorders of mitochondria and related metabolism

Current Opinion in Neurology

Volumn 10, Issue 2, 1997, Pages 160-167

  Zeviani, Massimo ^a,b   Fernandez Silva, Patricio ^a   Tiranti, Valeria ^b  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE MUTATION; HUMAN; MITOCHONDRIAL RESPIRATION; OXIDATIVE PHOSPHORYLATION; RESPIRATORY CHAIN;

EID: 0030898691     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199704000-00015     Document Type: Article

References (99)

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76. Torroni A, Carelli V, Petrozzi M, Terracina M, Barboni P, Malpassi P, Wallace DC, Scozzari R: Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy. Am J Hum Genet 1996, 59:248-252.
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79. Bentlage HACM, Attardi G: Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number. Hum Mol Genet 1996, 5:197-20576.
80. Zeviani M, Amati P, Comi G, Fratta G, Mariotti C, Tiranti V: Searching for •• genes affecting the structural integrity of the mltochondrial genome. Biochim Biophys Acta 1995, 1271:153-158. This article is part of a volume entirely devoted to basic and applied aspects of mt biochemistry and genetics, reporting several contributions to a 1994 Nobel Symposium.
81. Soumalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H, Peltonen L: An autosomal locus predisposing to deletions of mitochondrial DNA. Nature Genet 1995, 9:146-151.
82. Kaukonen JA, Amati P, Soumalainen A, Rötig A, Piscaglia M-G, Salvi F, •• Weissenbach J, Fratta G, Comi G, Peltonen L, Zeviani M: An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am J Hum Genet 1996, 58:763-769. The paper describes the second autosomal dominant progressive external ophthalmoplegia locus, and provides evidence for the existence of further genetic heterogeneity of this disease. Evidence for the existence of additional loci was provided by other families that were neither linked to the 10q nor to the 3p loci.
83. Bohlega S, Tanji K, Santorelli FM, Hirano M, al-Jishi A, DiMauro S: Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 1996, 46:1329-1334
84. Hirano M, Silvestri G, Blake D, Lombes A, Minerti C, Bonilla E, Hays AP, Lovelace RE, Butler I, Bertorini TE et al.: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994, 44:721-727.
85. Santorelli FM, Sciacco M, Tanji K, Shanske S, Vu TH, Golzi V, Griggs RC, Mdell JR, Hays AP, Bertorini TE et al: Multiple mitochondrlal DNA deletions in sporadic inclusion body myositis: a study of 56 patients. Ann Neurol 1996, 39:789-795.
86. Melegh B, Bock I, Gati I, Mehes K: Multiple mltochondrial DNA deletions and persistent hyperthermia in a patient with Brachmann De Lange phenotype. Am J Med Genet 1996, 65:82-88.
87. Mariotti C, Uziel G, Carrara F, Prelle A, Tiranti V, Di Donato S, Zeviani M: Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular genetic study. J Neurol 1995, 242:547-556.
88. Bakker HD, Scholte HR, Dingemans KP, Spelbrink JN, Wijkbur FA, Van den Bogen C: Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease. J Pediatr 1996, 128:683-687.
89. Bodnar AG, Cooper JM, Leonard JV, Schapira AHV: Respiratory deficient human flbroblasts exhibiting defective mltochondrial DNA replication. Biochem J 1995, 305:817-822.
90. Larsson NG, Oldfors A, Holme E, Clayton DA: Low levels of mltochondrlal transcription factor A in mltochondrial DNA depletion. Biochem Biophys Res Commun 1994, 200:1374-1381.
91. Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, •• Viegas-Pèquinot E, Munnich A, Rötig A: Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nature Genet 1995, 11:144-149. The first and so far the only persuasive demonstration of a mutation, leading to disease, in a nuclear gene encoding a subunit of a respiratory complex in humans. A yeast-based system provides an elegant demonstration of the deleterious effects of the mutations on OXPHOS metabolism.
92. Di Mauro S, De Vivo DC: Genetic heterogeneity in Leigh syndrome. • Ann Neurol 1996, 40:5-7. A thoughtful commentary on this intriguing clinical entity.
93. Rahman S, Blok RB, Dahl H-HM, Danks DM, Kirby DM, Chow CW, • Christodoulou J, Thorburn DR: Leigh syndrome: clinical features and DNA abnormalities. Ann Neurol 1996, 39:343-351 One of the largest series of LS patients studied through clinical, biochemical and molecular approaches.
94. •]: both provide evidence that complex I deficiency as a cause of LS is more common than previously believed.
95. Howell N, Kubacka I, Smith R, Frermann F, Parks JK, Parker WD: Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. Neurology 1996, 46:219-222.
96. Tiranti V, Munaro M, Sandonà D, Lamantea E, Rimoldi M, DiDonato S, •• Bisson R, Zeviani M: Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh syndrome: genetic evidence based on patient's derived rho transformants. Hum Mol Genet 1995, 4:2017-2023. COX-defective cells from a LS patient were deprived of mtDNA and fused with normal cytoplasts. The resulting cybrid line was COX-defective, indicating the nuclear origin of the gene responsible for the biochemical phenotype.
97. Munaro M, Tiranti V, Sandonà D, Lamantea E, Uziel G, Bisson R, Zeviani •• M: A single cell complementation class is common to several cases of cytochrome c oxidase defective Leigh's syndrome. Hum Mol Genet 1997, 6:221-228. Restoration of COX competency was demonstrated in hybrids obtained by fusing COX-defective cells and tumour-derived rho cells, indicating that the nucleus of the latter was able to complement the defect. By contrast no complementation was demonstrated in hybrids derived by fusing COX-defective cells from eight different patients, suggesting the presence of a single responsible gene in this series.
98. Bentlage HACM, Wendel U, Schägger H, ter Laak HJ, Janssen AJN, Trijbels JMF: Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle. Neurology 1996, 47:243-248.
99. Nijtmans LGJ, Barth PG, Lincke CR, Van Galen MJM, Zwart R, Klement P, • Bolhuis PA, Ruitenbeek W, Wanders RJA, Van den Bogert C: Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy. Biochim Biophys Acta 1995, 1270:193-201. One of the few recent papers on fine biochemical features of COX deficiency.