Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness - PubMed

Case Reports

Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

J M van den Ouweland et al. Nat Genet. 1992 Aug.

Abstract

Non-insulin-dependent (type II) diabetes mellitus (NIDDM) is characterized by hyperglycaemia and insulin resistance, and affects nearly 5% of the general population. Inherited factors are important for its development, but the genes involved are unknown. We have identified a large pedigree in which NIDDM, in combination with a sensorineural hearing loss, is maternally inherited. The maternal inheritance and the observed decrease in mitochondrial enzyme activities of the respiratory chain indicate a genetic defect in the mitochondrial DNA. An A to G transition was identified at nucleotide 3,243, a conserved position in the mitochondrial gene for tRNA(Leu)(UUR). This mutation cosegregates with the disease in this family and is absent in controls, and indicates that a point mutation in mitochondrial DNA is a pathogenetic factor for NIDDM.

Similar articles

• Mitochondrial gene variation in type 2 diabetes mellitus: detection of a novel mutation associated with maternally inherited diabetes in a Chinese family.

  Ma L, Wang H, Chen J, Jin W, Liu L, Ban B, Shen J, Hua Z, Chai J. Ma L, et al. Chin Med J (Engl). 2000 Feb;113(2):111-6. Chin Med J (Engl). 2000. PMID: 11775531

• Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.

  van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D, Froguel P, Maassen JA. van den Ouweland JM, et al. Diabetes. 1994 Jun;43(6):746-51. doi: 10.2337/diab.43.6.746. Diabetes. 1994. PMID: 7910800

• [Diabetes mellitus associated with the A3243G mutation of mitochondrial DNA. Apropos a case].

  Biarnés J, Barrientos A, Ricart W, Nunes V, Fernández-Castañer M, Soler J. Biarnés J, et al. Med Clin (Barc). 1999 Jan 30;112(3):99-101. Med Clin (Barc). 1999. PMID: 10074618 Review. Spanish.

• Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.

  Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM. Smith PR, et al. Ophthalmology. 1999 Jun;106(6):1101-8. doi: 10.1016/S0161-6420(99)90244-0. Ophthalmology. 1999. PMID: 10366077

• Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA.

  Maassen JA, van den Ouweland JM, t Hart LM, Lemkes HH. Maassen JA, et al. Horm Metab Res. 1997 Feb;29(2):50-5. doi: 10.1055/s-2007-978984. Horm Metab Res. 1997. PMID: 9105898 Review.

Cited by

• Modifying the Mitochondrial Genome.

  Patananan AN, Wu TH, Chiou PY, Teitell MA. Patananan AN, et al. Cell Metab. 2016 May 10;23(5):785-96. doi: 10.1016/j.cmet.2016.04.004. Cell Metab. 2016. PMID: 27166943 Free PMC article. Review.

• Endocrine Manifestations and New Developments in Mitochondrial Disease.

  Ng YS, Lim AZ, Panagiotou G, Turnbull DM, Walker M. Ng YS, et al. Endocr Rev. 2022 May 12;43(3):583-609. doi: 10.1210/endrev/bnab036. Endocr Rev. 2022. PMID: 35552684 Free PMC article.

• Deciphering the Spectrum of Mitochondrial DNA Mutations in Hepatocellular Carcinoma Using High-Throughput Sequencing.

  Yu C, Wang X, Huang L, Tong Y, Chen L, Wu H, Xia Q, Kong X. Yu C, et al. Gene Expr. 2018 May 18;18(2):125-134. doi: 10.3727/105221618X15185539348147. Epub 2018 Feb 20. Gene Expr. 2018. PMID: 29463347 Free PMC article.

• Mitochondrial DNA mutations and pathogenesis.

  Schon EA, Bonilla E, DiMauro S. Schon EA, et al. J Bioenerg Biomembr. 1997 Apr;29(2):131-49. doi: 10.1023/a:1022685929755. J Bioenerg Biomembr. 1997. PMID: 9239539 Review.

• Mitochondrial metabolism and diabetes.

  Kwak SH, Park KS, Lee KU, Lee HK. Kwak SH, et al. J Diabetes Investig. 2010 Oct 19;1(5):161-9. doi: 10.1111/j.2040-1124.2010.00047.x. J Diabetes Investig. 2010. PMID: 24843427 Free PMC article. Review.

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Nature Publishing Group
  • Silverchair Information Systems

• Other Literature Sources

  • The Lens - Patent Citations Database

• Medical

  • MedlinePlus Health Information