Maternally-inherited diabetes and deafness: Report of two affected German families with the A3243G mitochondrial DNA mutation

Experimental and Clinical Endocrinology and Diabetes

Volumn 106, Issue 5, 1998, Pages 384-388

  Thorns, C ^a   Widjaja, A ^a   Boeck, N ^a   Skamira, C ^a   Zuhlke H ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

Family studies; MIDD; Mitochondrial DNA mutation

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AGED; ARTICLE; BODY MASS; DIABETES MELLITUS; FAMILY STUDY; GENE MUTATION; GERMANY; HEARING IMPAIRMENT; HUMAN; MAJOR CLINICAL STUDY; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0031720931     PISSN: 09477349     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0029-1212003     Document Type: Article

References (15)

1. Gerbitz KD, Gempel K, Brdizka D: Genetic, biochemical, and clinical implications of the cellular energy circuit. Diabetes 45: 113-126, 1996
2. Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348: 651-653, 1990
3. Leu (UUR) A-G 3243 mutation: a clinical and genetic study. Brain 118: 721-734, 1995
4. t'Hart LM, Jansen JJ, Lemkes PJ, Kniff P, Maassen JA: Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leukocyte DNA upon ageing. Human Mutation 7: 193-197, 1996
5. Jaksch M, Hofmann S, Kaufhold P, Obermaier-Kusser B, Zierz S, Gerbitz KD: A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus. Human Mutation 7: 358-360, 1996
6. Maassen JA, Jansen JJ, Kadowaki T, van den Ouveland JMW, t'Hart LM, Lemkes HHPJ: The molecular basis and clinical characteristics of Maternally Inherited Diabetes and Deafness (MIDD), recently recognized diabetic subtype. Exp Clin Endocrinol Diabetes 104: 205-211, 1996
7. Maassen JA, Kadowaki T: Maternally inherited diabetes and deafness: a new diabetes subtype. Diabetologia 39: 375-382, 1996
8. Maassen JA, van den Ouveland JMW, t'Hart LM, Lemkes HP: Maternally inherited diabetes and deafness: A diabetes subtype associated with a mutation in the mitochondrial DNA. Horm.-Metab. Res. 29: 50-55, 1997
9. Poulton J, Morten K: Non-invasive diagnosis of the MELAS syndrome from blood DNA. Annals of Neurology 34 (1): 116, 1993
10. Reardon W, Ross RJM, Sweeny MG, Luxon LM, Pemprey ME, Harding AE, Trembath RC: Diabetes mellitus associated with a pathogenic point mutation in the mitochondrial DNA. Lancet 340: 1376-1379, 1992
11. Leu(UUR) gene: a study in seven families with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Diabetologia 37: 818-825, 1994
12. Taylor RW, Chimmery PF, Turnbull DM, Lightowlers RN: Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nature Genetics 15: 212-215, 1997
13. Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1: 368-371, 1992
14. Wallace DC: Diseases of the mitochondrial DNA. Annu. Rev. Biochem. 61: 1175-1212, 1992
15. Wallace DC: Mitochondrial DNA sequence variation in human evolution and disease. Proc. Natl. Acad. Sci. USA 91: 8739-8746, 1994