Mitochondrial encephalomyopathies: Advances in understanding

Medical Science Monitor

Volumn 11, Issue 7, 2005, Pages

  Chaturvedi, Sujata ^a,b   Bala, Kiran ^a   Thakur, Rajeev ^a   Suri, Vaishali ^a  

^a INSTITUTE OF HUMAN BEHAVIOUR AND ALLIED SCIENCES   (India)

^b UCMS AND GTB HOSPITAL   (India)

Author keywords

Encephalomyopathies; Mitochondrial disorders

Indexed keywords

ASCORBIC ACID; CORTICOSTEROID; DICHLOROACETIC ACID; MENADIONE; RIBOFLAVIN; UBIQUINONE;

AEROBIC METABOLISM; CENTRAL NERVOUS SYSTEM; CLINICAL FEATURE; GENOTYPE; HISTOCHEMISTRY; HISTOPATHOLOGY; HUMAN; MITOCHONDRIAL ENCEPHALOMYOPATHY; MITOCHONDRIAL GENETICS; MITOCHONDRION; MUSCLE BIOPSY; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; REVIEW; SKELETAL MUSCLE;

DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; HUMANS; MITOCHONDRIA; MITOCHONDRIAL ENCEPHALOMYOPATHIES; OXIDATIVE PHOSPHORYLATION;

EID: 22244490046     PISSN: 12341010     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (52)

1. Zeviani M, Fernandez-Silva P, Tiranti V: Disorders of mitochondria and related metabolism. Curr Opin in Neurol, 1997; 10: 160-67
2. Johns RD: Mitochondrial DNA and disease. New Engl J Med, 1995; 333; 638-44
3. Wallace DC, Lott MT: Maternally inherited diseases. In: DiMauro S, Wallace DC, (eds.), Mitochondrial DNA in Human Pathology. New York, Raven Press, 1993; 63-83
4. Di Mauro S, Moraes CT: Mitochondrial encephalomyopathies. Arch Neurol, 1993; 50: 1197-208
5. Wallace DC, Zheng X, Lott MT et al: Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological and biochemical characterization of a mitochondrial DNA disease. Cell, 1988; 55: 601-10
6. Giles RE, Blanc H, Cann RM, Wallace DC: Maternal inheritance of human mitochondrial DNA Proc Natl Acad Sci USA, 1980; 77: 6715-19
7. Wallace DC: Diseases of the mitochondrial DNA. Annu Rev Biochem, 1992; 61: 1175-212
8. Holt IJ, Harding AE, Morgan Hughes JA: Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature, 1988; 331: 717-19
9. Wallace DC, Singh G, Lott MT et al: Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science, 1988; 242: 1427-30
10. Moraes CT, Ricci E, Petruzzella V et al: Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions. Nature Genet, 1992; 1: 359-67
11. Walker UA, Collins S, Byrne E: Respiratiry Chain Encephalomyopathies: A Diagnostic Classification. Eur Neurol, 1996; 36: 260-67
12. Geyer CA, Sartor KJ, Prensky AJ et al: Leigh disease (subacute necrotizing encephalomyelopathy): CT and MRI in five cases. J Comput Tomogr, 1988; 12: 40-44
13. Santorelli F, Shanske S, Macaya A et al: The mutation at nt8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol, 1993; 34: 827-34
14. th ed. Wallon J (ed.), Oxford Medical Publishers, UK, 1993; 453-77
15. Moraes CT, Shanske S, Tritschler H-J et al: MtDNA depletion with variable tissue expression; a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet, 1991; 48: 492-501
16. Rotig A, Cormier V, Blanche S et al: Pearson's marrow-pancreas syndrome: a multisystem mitichondrial disorder in infancy. J Clin Invest, 1990; 86: 1601-8
17. Pearson HA, Lobel JS, Kocoshis SA et al: A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr, 1979; 95: 976-84
18. McShane MA, Hammans SR, Sweeney M et al: Pearson's syndrome and mitochondrial encephalopathy in a patient with a deletion of mtDNA. Am J Hum Genet, 1991; 48: 39-42
19. Rowland LP, Blake D, Hirano M et al: Clinical syndromes associated with ragged red fibres. Rev Neurol, 1991; 147: 467-73
20. Shoffner JM: Mitochondrial Myopathy Diagnosis Neurologic Clinics, 2000; 18: 105-23
21. Ciafaloni E, Ricci E, Shanske S et al: MELAS: clinical features, biochemistry and molecular genetics. Ann Neurol, 1992; 31: 391-98
22. Kurivama M, Umezaki H, Fukuda Y et al: Mitochondrial encephalomyopathy with lactate-pyruvate elevations and brain infarctions. Neurology, 1984; 34: 72-77
23. Mukoyama M, Kazui H, Sunohara N et al: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: a clinicopathological study of a unique case. J Neurol, 1986; 233: 228-32
24. Fukuhara N, Tokiguchi S, Shirikawa K et al: Myoclonus epilepsy associated with ragged red fibers: disease entity or a syndrome?. J Neurol Sci, 1980; 4: 117-33
25. Byrne E, Dennett X, Trounce I: Mitochondrial myoneuropathy with respiratory failure and myoclonic epilepsy. J Neurol Sci, 1985; 71: 273-81
26. Fukuhara N: Stroke like episodes in MERRF. Ann Neurol, 1985; 18: 368
27. Lys mutation. Cell, 1990; 61: 931-37
28. Lys gene. Eur J Hum Genet, 1993; 1: 80-87
29. Silvestri G, Ciafaloni E, Santorelli F et al: Clinical features associated with the A G transition at nucleotide 8344 of mtDNA (MERRF mutation). Neurology, 1993; 43: 1200-6
30. Newman NJ: Leber's hereditary optic neuropathy Ophthalmol Clin North Am, 1991; 4: 431-47
31. Bardosi A, Creutzfeldt W, Di Mauro S et al: Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c oxidase: a new mitochondrial multisystem disorder. Acta Neuropathol, 1987; 74: 248-58
32. Nishino I, Spinazzola A, Hirano M: Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science, 1999; 283: 689-92
33. Marchington DR, Macaulay V, Hartshorne GM et al: Evidence from human oocytes for a genetic bottleneck in an mtDNA disease. Am J Hum Genet, 1998; 63(3): 769-75
34. Shoubridge EA: Mitochondrial encephalomyopathies. Curr Opin Neurol, 1998; 11: 491-96
35. Poulton J: Transmission of mtDNA: Cracks in the bottleneck. Am J Hum Genet, 1995, 57: 224-26
36. Ghosh SS, Fahy E, Boddis WI et al: Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer - extension analysis and nucleotide sequencing. Am J Hum Genet, 1996; 58: 325-34
37. Jenith JP, Peterson AC, Fuk, Shoubridge EA: Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nature GENET, 1996; 14: 146-51
38. King MP, Attardi G: Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science, 1989; 246: 500-3
39. Chomyn A, Meola G, Bresolin N et al: In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. Moll Cell Biol, 1991; 11: 2236-44
40. Hayashi JI, Ohta S, Kikuchi A et al: Introduction of disease related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci USA, 1991; 88: 1371-75
41. David E, Seth L, Chimelli L et al: Mitochondrial encephalophathies. In: Neuropathology. David E, Seth L, Chimelli L et al (ed.). Barcelona, Mosby International Ltd, 1998
42. Olson W, Engel W, Walsh G et al: Oculocraniosomatic neuromuscular disease with "ragged-red" fibres. Arch Neurol, 1972; 26: 193-211
43. Peterson PL, Martens ME, Lee CP: Mitochondrial encephalomyopathies. Neurologic Clinics, 1988; 6(3): 529-44
44. Petty RKH, Harding AE, Morgan-Hughes JA: The clinical features of mitochondrial myopathy. Brain, 1986; 109: 915-38
45. th ed, New York, McGraw-Hill, 1989; 869-88
46. MJ Jackson, JA Schafer, MAJohnson et al: Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients. Brain, 1995: 118; 339-57
47. Nashef L, Lane RJM: Screening for mitochondrial cytopathies: the sub-anaerobic threshold exercise test (SATET). J Neurol Neurosurg Psychiatry, 1989; 52: 1090-94
48. Munnich A, Rustin P, Rotig A et al: Clinical aspects of mitochondrial disorders. J Inherit Metab Dis, 1992; 15: 448-55
49. Bresolin N, Zeviani M, Bonilla E et al: Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle. Neurology, 1985; 35: 802-12
50. Hall K, Gardner-Medwin D: CT scan appearances in Leigh's disease (subacute necrotizing encephalomyelopathy). Neuroradiology, 1978; 16: 48-50
51. Kimura S, Ohtuki N, Nezu A et al: Clinical and radiologic improvements in mitochondrial encephalomyelopathy following sodium dichloroacetate therapy. Brain Dev, 1997; 19(8): 535-40
52. Zeman J, Houstkova H, Dudkova Z et al: Sodium dichloroacetate treatment of children with mitochondrial encephalomyopathies. Med Sci Monit, 1998; 4(3): 436-42