Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness

Human Mutation

Volumn 12, Issue 1, 1998, Pages 52-58

  Olsson, Charlotta ^a   Zethelius, Björn ^b   Lagerström Fermér, Maria ^a   Asplund, Johan ^c   Berne, Christian ^b   Landegren, Ulf ^a,d  

^a UPPSALA UNIVERSITY   (Sweden)

^b UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^c FALUN HOSPITAL   (Sweden)

^d UPPSALA UNIVERSITY   (Sweden)

Author keywords

Diabetes; Hearing loss; Mitochondrial gene mutation

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CLINICAL ARTICLE; DIABETES MELLITUS; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; MALE; ONSET AGE; PATHOGENESIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; BASE SEQUENCE; DEAFNESS; DIABETES MELLITUS, TYPE 2; DNA PRIMERS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; REPRODUCIBILITY OF RESULTS;

EID: 0031745480     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:1<52::AID-HUMU8>3.0.CO;2-K     Document Type: Article

References (26)

1. Chomyn A, Martinuzzi A, Yoneda M, Daga A, Hurko O, Johns D, Lai ST, Nonaka I, A ngelini C, Attardi G (1992) MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc Natl Acad Sci USA 89:4221-4225.
2. Ciafaloni E, Ricci E, Shanske S, Moraes CT Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, et al.. (1992) MELAS: Clinical features, biochemistry, and molecular genetics. Ann Neurol 31:391-398.
3. Gerbitz KD, van den Ouweland JM, Maassen JA, Jaksch M (1995) Mitochondrial diabetes mellitus. A review. Biochim Biophys Acta 1271:253-260.
4. Goto Y, Megumu T, Tohyama J, et al. (1992) A novel pointmutation in the mitochondrial tRNA leu(UUR) gene in a family with mitochondrial myopathy. Ann Neurol 31:672-675.
5. Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNA(Leu) (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348:651-653.
6. Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE (1995) The mitochondrial DNA transfer RNALeu(UUR)A→G(3243) mutation A clinical and genetic study. Brain 118.721-734.
7. Holme E, Tulinius MH, Larsson NG, Oldfors A (1995) Inheritance and expression of mitochondrial DNA point mutations. Biochim Biophys Acta 1271:249-252.
8. Kadowaki T, Kadowaki H, Mori Y, Tobe K, Sakuta R, Suzuki Y, Tanabe Y, Sakura H, Awata T, Goto Y, et al. (1994) A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N Engl J Med 330.962-968.
9. Katagiri H, Asano T, Inukai K, Anai M, Yamanouchi T, Tsukuda K, et al (1994) Mitochondrial diabetes mellitus: Prevalence and clinical characterization of diabetes due to mitochondrial tRNAleu(UUR) gene mutation in Japanese patients. Diabetologia 37:504-510.
10. Lagerkvist A, Stewart J, Lagerstrom-Fermer M, Landegren U (1994) Manifold sequencing: Efficient processing of large sets of sequencing reactions. Proc Natl Acad Sci USA 91:2245-2249.
11. Maassen JA, Kadowaki T (1996) Maternally inherited diabetes and deafness: A new diabetes subtype. Diabetologia 39:375-382.
12. McInnis MG (1996) Anticipation: An Old Idea in New Genes. Am J Hum Genet 59:973-979.
13. Oshima T, Ueda N, Ikeda K, Abe K, Takasaka T (1996) Bilateral sensorineural hearing loss associated with the point mutation in mitochondrial genome. Laryngoscope 106:43-8.
14. Ozawa T (1995) Mechanism of somatic mitochondrial DNA mutations associated with age and diseases. Biochim Biophys Acta 1271:177-189.
15. Pallotti F, Chen X, Bonilla E, Schon EA (1996) Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging. Am J Hum Genet 59:591-602.
16. Poulton J (1993) Mitochondrial DNA and genetic disease. Dev Med Child Neurol 35:833-840.
17. Poulton J, Morten K (1993) Noninvasive diagnosis of the MELAS syndrome from blood DNA. Ann Neurol 34:116.
18. Reardon W, Ross RJM, Sweeney MG, et al. (1992) Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 340:1376-1379.
19. leu(UUR)) mutation at position 3243bp in UK Caucasian type 2 diabetic patients. Diabetic Med 14:42-45.
20. Smith GK, Jie J, Fox GE, Gao X (1995) DNA CTG triplet repeats involved in dynamic mutations of neurologically related gene sequences form stable duplexes. Nucleic Acids Res 23:4303-44311.
21. Soumalainen A, Majander A, Phiko H, Peltonen L, Syvanen A-C (1993) Quantification of tRNA3243 Leu point mutation of mitochondrial DNA in MELAS patients and its effects of mitochondrial transcription. Hum Mol Genet 2:525-534.
22. t'Hart LM, Jansen JJ, Lemkes HHPJ, de Knijff P, Maassen JA (1996) Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging. Hum Mutat 7:193-197.
23. van den Ouweland JM, Lemkes HH, Ruitenbeek W Sandkuijl LA, de Vijlder MF, S truyvenberg PA, van de Kamp JJ, Maassen JA (1992) Mutation in mitochondrial tRNA(Leu) (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genet 1:368-371.
24. Vionnet N, Passa P, Frougel P (1993) Prevalence of mitochondrial gene mutations in families with diabetes mellitus. Lancet 342:1429-1430.
25. WHO (1985) Expert Committee on Diabetes Mellitus. Third report. WHO Tech Rep Ser 727. Geneva. WHO, pp 1-113.
26. Yamasoba T, Oka Y, Tsukuda K, Nakamura M, Kaga K (1996) Auditory findings in patients with maternally inherited diabetes and deafness harboring a point mutation in the mitochondrial transfer RNA(Leu) (UUR) gene. Laryngoscope 106:49-53.