MELAS syndrome associated with a tandem duplication in the D-loop of mitochondrial DNA

Acta Neurologica Scandinavica

Volumn 93, Issue 6, 1996, Pages 450-455

  Li, J Y ^a   Kong, K W ^a   Chang, M H ^a   Cheung, S C ^a   Lee, H C ^a   Pang, C Y ^a   Wei, Y H ^a  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

Hyperthyroidism; MELAS; Mitochondrial DNA; Mitochondrial encephalomyopaty; Tandem duplication

Indexed keywords

MITOCHONDRIAL DNA; THYROTROPIN RECEPTOR ANTIBODY;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; MALE; MELAS SYNDROME;

EID: 0030056571     PISSN: 00016314     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0404.1996.tb00025.x     Document Type: Article

References (23)

1. DIMAURO S, BONILLA E, ZEVIANI M, NAKAGAWA M, DEVIVO DC. Mitochondrial myopathies. Ann Neurol 1985; 17: 521-538.
2. PAVLAKIS SG, PHILLIPS PC, DIMAURO S et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome. Ann Neurol 1984; 16: 481-484.
3. KOO B, BECKER LE, CHUANG S et al. Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations. Ann Neurol 1993; 34: 25-32.
4. WALLACE DC. Diseases of the mitochondrial DNA. Annu Rev Biochem 1992; 61: 1175-1212.
5. POULTON J, MORTEN KJ, WEBER K, BROWN GK, BINDOFF L. Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? Hum Mol Genet 1994; 3: 947-951.
6. Leu(UUR) gene associated with the MELAS subgroup of mitochondrial myopathies. Nature 1990; 348: 651-653.
7. Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes). Biochem Biophys Res Commun 1990; 173: 816-822.
8. GOTO Y-I, NONAKA I, HORAI S. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochim Biophys Acta 1991; 1097: 238-240.
9. FANG W, HUANG CC, LEE CC et al. Ophthalmologic manifestations in MELAS syndrome. Arch Neurol 1993; 50: 977-980.
10. CHEN RS, HUANG CC, LEE CC et al. Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies. Acta Neurol Scand 1993; 87: 494-498.
11. Leu(UUR) gene mutation in a Chinese family. J Neurol Neurosurg Psychiatry 1994; 57: 586-589.
12. BROCKINGTON M, SWEENEY MG, HAMMANS SR, MORGAN-HUGHES JA, HARDING AE. A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies. Nature Genet 1993; 4: 67-71.
13. LEE HC, PANG CY, HSU HS, WEI YH. Ageing-associated tandem duplications in the D-loop of mitochondrial DNA of human muscle. FEBS Lett 1994; 354: 79-83.
14. HAMMANS SR, SWEENEY MG, BRONCKINGTON M et al. Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples. Lancet 1991; 337: 1311-1313.
15. HARVEY JN, BARNETT D. Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol 1992; 37: 97-104.
16. Leu(UUR) mutation of mitochondrial DNA. Acta Neurol Scand 1995; 91: 62-65.
17. TANABE Y, MIYAMOTO S, KINOSHITA Y et al. Diabetes mellitus in Kearns-Sayre syndrome. Eur Neurol 1988; 28: 34-38.
18. LAKIN M, LOCKE S. Progressive ocular myopathy with ovarian insufficiency and diabetes mellitus. Report of a case. Diabetes 1961; 10: 228-231.
19. SHIRAIWA N, ISHII A, IWAMOTO H, MIZUSAWA H, KAGAWA Y, OHTA S. Content of mutant mitochondrial DNA and organ dysfunction in a patient with a MELAS subgroup of mitochondria] encephalomyopathies. J Neurol Sci 1993; 120: 174-179.
20. GERBITZ KD. Does the mitochondrial DNA play a role in the pathogenesis of diabetes. Diabetologia 1992; 35: 1181-1186.
21. LOVELAND B, WANG CR, YONEGAWA H, HERMEL E, FISCHER-LINDAHL K. Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitonchondrially encoded protein. Cell 1990; 60: 971-80.
22. MANFREDI G, SERVIDEI S, BONILLA E et al. High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with mitochondrial myopathy. Neurology 1995; 45: 762-768.
23. BROWN MD, VOLJAVEC AS, LOTT MT et al. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics 1992; 130: 163-173.