Absence of maternal A3243G mtDNA mutation and reversible hyperglycemia in a patient with MELAS syndrome

Acta Neurologica Scandinavica

Volumn 101, Issue 1, 2000, Pages 65-69

  Myhr, K M ^a   Sadallah, S ^b   Mollnes, T E ^c   Meri, S ^d   Nyland, H I ^a   Schifferli, J ^b   Vedeler, C A ^a  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF BASEL   (Switzerland)

^c NORDLAND HOSPITAL   (Norway)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Diabetes mellitus; Environmental stress; MELAS; Mitochondrial DNA; Spontaneous mutation

Indexed keywords

C PEPTIDE; CREATINE KINASE; DNA; GLUCAGON; GLUCOSE; GLYCOSYLATED HEMOGLOBIN; INSULIN; LACTATE DEHYDROGENASE; LACTIC ACID; MITOCHONDRIAL DNA; ORAL ANTIDIABETIC AGENT;

ADULT; ARTICLE; BIOPSY; CASE REPORT; DIABETES MELLITUS; ENCEPHALOMYOPATHY; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERGLYCEMIA; MELAS SYNDROME; MUTATION; PANCREAS ISLET BETA CELL; POINT MUTATION; POLYMERASE CHAIN REACTION; STRESS;

ADULT; DIABETES MELLITUS; DNA, MITOCHONDRIAL; FEMALE; GENOTYPE; HUMANS; HYPERGLYCEMIA; MELAS SYNDROME; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; STATUS EPILEPTICUS;

EID: 0033976467     PISSN: 00016314     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0404.2000.00013.x     Document Type: Article

References (25)

1. 1. Pavlakis SG, Phillips PC, Dimauro S, Devivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome. Ann Neurol 1984;16:481-8.
2. (3243) mutation: A clinical and genetic study. Brain 1995;118:721-34.
3. 3. Kobayashi Y, Ichihashi K, Ohta S et al. The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations. J Inherit Metab Dis 1992;15:803-8.
4. 4. Martinuzzi A, Bartolomei L, Carrozzo R et al. Correlation between clinical and molecular features in two MELAS families. J Neurol Sci 1992;113:222-9.
5. Leu[3243]) in tissues of symptomatic relatives with MELAS: The role of mitotic segregation. Neurology 1993;43:1586-90.
6. 6. Chen RS, Huang CC, Lee CC et al. Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies. Acta Neurol Scand 1993;87:494-8.
7. Leu(UUR) gene mutation in a Chinese family. J Neurol Neurosurg Psychiatry 1994;57: 586-9.
8. 8. Liou CW, Huang CC, Chee ECY et al. MELAS syndrome: correlation between clinical features and molecular genetic analysis. Acta Neurol Scand 1994;90:354-9.
9. 9. Giles RE, Blanc H, Cann HM, Wallace DC. Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci USA 1980;77:6715-19.
10. Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992;1:368-71.
11. 11. Reardon W, Ross RJM, Sweeney MG et al. Diabetes-mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 1992;340:1376-9.
12. Leu(UUR) gene Diabetologia 1995;38:193-200.
13. 13. Onishi H, Inoue K, Osaka H et al. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and diabetes mellitus: molecular genetic analysis and family study. J Neurol Sci 1993;114:205-8.
14. Leu(UUR) mutation. Neurology 1993;43:1015-20.
15. 15. Shih KD, Yen TC, Pang CY, Wei YH. Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease (MERRF). Biochem Biophys Res Commun 1991;174:1109-16.
16. 16. Fang W, Huang CC, Lee CC, Chen SY, Pang CY, Wei YH. Ophthalmologic manifestation in MELAS syndrome. Arch Neurol 1993;50:977-80.
17. 17. Juang JH, Huang BY, Huang HS, Lin JD, Huang MJ. C-peptide response to glucagon in young diabetics. J Formos Med Assoc 1989;88:579-83.
18. 18. National Diabetes Data Group. Classification and diagnosis of diabetes mellitus and other categories of glucose intolerance. Diabetes 1979;28:1039-57.
19. 19. Wallace DC. Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance. Somat Cell Mol Genet 1986;12:41-9.
20. 20. Ashley MV, Laipis PJ, Hauswirth WW. Rapid segregation of heteroplasmic bovine mitochondria. Nucleic Acids Res 1989;17:7325-31.
21. 21. Huang CC, Chen RS, Chu NS, Pang CY, Wei YH. Random mitotic segregation of mitochondrial DNA in MELAS syndrome. Acta Neurol Scand 1996;93:198-202.
22. 22. Yamamoto M. Did de novo MELAS common mitochondrial DNA point mutation (mtDNA 3243, A→G transition) occur in the mother of a proband of a Japanese MELAS pedigree? J Neurol Sci 1996;135:81-4.
23. 23. Mechler F, Fawcett PRW, Mastaglic FL, Hudgson P. Mitochondrial myopathy: a study of clinically affected and asymptomatic members of a six-generation family. J Neurol Sci 1981;50:191-200.
24. 24. Tanaka M, Ino H, Ohno K et al. Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem Biophys Res Commun 1991;174:861-8.
25. 25. Ballinger SW, Shoffner JM, Hedaya EV et al. Maternally transmitted diabetes mellitus and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet 1992;1: 11-5.