Maternally inherited diabetes and deafness: Prevalence in a hospital diabetic population

Diabetic Medicine

Volumn 14, Issue 6, 1997, Pages 457-460

  Newkirk, J E ^a   Taylor, R W ^a   Howell, N ^b   Bindoff, L A ^a   Chinnery, P F ^a   Alberti, K G M M ^a   Turnbull, D M ^a   Walker, M ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF TEXAS   (United States)

Author keywords

Maternally inherited diabetes and deafness; MELAS prevalence; Mitochondrial DNA

Indexed keywords

LEUCINE TRANSFER RNA; MITOCHONDRIAL RNA;

ADULT; ARTICLE; DIABETES MELLITUS; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENOTYPE; HEARING IMPAIRMENT; HOSPITAL PATIENT; HUMAN; MAJOR CLINICAL STUDY; MALE; MELAS SYNDROME; NUCLEIC ACID BASE SUBSTITUTION; PREVALENCE;

ADULT; DEAFNESS; DIABETES MELLITUS; DNA, MITOCHONDRIAL; EUROPE; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOTHERS; PEDIGREE; POINT MUTATION; PREVALENCE; QUESTIONNAIRES; RNA; RNA, TRANSFER, LEU;

EID: 0030872101     PISSN: 07423071     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-9136(199706)14:6<457::AID-DIA372>3.0.CO;2-W     Document Type: Article

References (24)

1. Leu(UUR) gene point mutation. Muscle and Nerve 1995; S3: S124-S130.
2. Maassen JA, Kadowaki T. Maternally inherited diabetes and deafness: a new diabetes subtype. Diabetologia 1996; 39: 375-382.
3. Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes and deafness. Nature Genet 1992; 1: 368-371.
4. Van den Ouweland JMW, Lemkes HHPJ, Trembath RC, Ross R, Velho G, Cohen D, et al. Maternally inherited diabetes mellitus and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial gene. Diabetes 1994; 43: 746-751.
5. Reardon W, Ross R, Sweeney MG, Luxon LM, Pembrey ME, Harding AE, et al. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 1992; 340: 1376-1379.
6. Leu(UUR) gene. FEBS Lett 1993; 321: 194-196.
7. Leu(UUR) mutation. Neurology 1993; 43: 1015-1020.
8. Kadowaki T, Kadowaki H, Mori Y, Tobe K, Sakuti R, Susuki Y, et al. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N Engl J Med 1994; 330: 962-968.
9. Hattersley AT, Dronsfield MJ, Smith PR, Kumar S, Johnson A, Barnett AH, et al. Mitochondrial mutations are an important cause of insulin-treated diabetes and deafness. Diabetic Med 1994; 11: S45-46.
10. Alcolado JC, Majid A, Brockington M, Sweeney MG, Morgan R, Rees A, et al. Mitochondrial gene defects in patients with NIDDM. Diabetologia 1994; 37: 372-376.
11. Leu(UUR) mutation in Japanese patients. Diabetologia 1994; 37: 504-510.
12. Leu(UUR) gene. Diabetologia 1995; 38: 193-200.
13. McCarthy M, Cassell P, Tran T, Mathias L, 't Hart LM, Maassen JA, et al. Evaluation of the importance of maternal history of diabetes and of mitochondrial variation in the development of NIDDM. Diabetic Med, 1996; 13: 420-428.
14. Vionnet N, Passa P, Froguel P. Prevalence of mitochondrial gene mutations in families with diabetes mellitus. Lancet 1993; 342: 1429-1430.
15. Janssen JJ, Rutten CFA, Hart LM't, Maassen JA, Lemkes HHPJ. Clinical presentation of diabetes associated with a mitochondrial mutation. Diabetologia 1995; 38: A75.
16. Leu(UUR) gene: a study in seven families with MELAS. Diabetologia 1994; 37: 818-825.
17. Leu(UUR) mutation. Diabetes Care 1995; 18: 11: 1507-1509.
18. Goto Y, Nonake I, Horai S. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS). Nature 1990; 348: 651-653.
19. Howell N, Kubacka I, Halvorson S, Howell B, McCullough DA, Mackey D. Phylogenetic analysis of the mitochondrial genome from Leber hereditary optic neuropathy pedigrees. Genetics 1995; 140: 285-302.
20. Anderson S, Bankier AT, Barrell BG, de Bruijn MHL, Coulson AR, Drouin J, et al. Sequence and organization of the human mitochondrial genome. Nature 1981; 290: 457-465.
21. T'Hart LM, Lemkes HHPJ, Heine RJ, Stolk RP, Feskens EJM, Jansen JJ, et al. Prevalence of maternally inherited diabetes and deafness in diabetic populations in the Netherlands. Diabetologia 1994; 37: 1169-1170.
22. Leu(UUR)) mutation at position 32436p in UK Caucasian Type 2 diabetic patients. Diabetic Med 1997; 14: 42-45.
23. Kobayashi T, Oka Y, Katagari H, Falorni A, Kasuga A, Takei I, et al. Association between HLA and islet antibodies in diabetic patients with a mitochondrial DNA mutation at base pair 3243. Diabetologia 1996; 39: 1196-1200.
24. Ciafoloni E, Ricci E, Shankse S, Moraes CT, Silvestri G, Hirano M, et al. MELAS: clinical features, biochemistry and molecular genetics. Ann Neurol 1992; 31: 391-398.