MtDNA mutations in maternally inherited diabetes: Presence of the 3397 ND1 mutation previously associated with Alzheimer's and Parkinson's disease

Hereditas

Volumn 135, Issue 1, 2001, Pages 65-70

  Cavelier, Lucia ^a   Erikson, Inger ^a   Tammi, Martti ^a   Jalonen, Paula ^a   Lindholm, Eva ^a   Jazin, Elena ^a   Smith, Paul ^c   Luthman, Holger ^b   Gyllensten, Ulf ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

METHIONINE; VALINE;

ADULT; AGED; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CAUCASIAN; CODON; CONTROLLED STUDY; DIABETES MELLITUS; DISEASE ASSOCIATION; ENVIRONMENTAL FACTOR; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HEARING IMPAIRMENT; HETEROPLASMY; HOMOPLASY; HUMAN; INHERITANCE; MELAS SYNDROME; MITOCHONDRIAL GENETICS; MOTHER; PARKINSON DISEASE; PEDIGREE; WOLFRAM SYNDROME;

EID: 0036115729     PISSN: 00180661     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1601-5223.2001.00065.x     Document Type: Article

References (23)

1. Alcolado JC, Majid A, Brockington M, Sweeney MG, Morgan R, Rees A and Harding AE, (1994). Mitochondrial gene defects in patients with NIDDM. Diabetologia 37: 372-376.
2. Ballinger SW, Shoffner JM, Hedaya EV, Trounce I, Polak MA, Koontz DA and Wallace DC, (1992). Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat. Genet. 1: 11-15.
3. Brown MD, Torroni A, Reckord CL and Wallace DC, (1995). Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. Hum. Mutat. 6: 311-325.
4. Brown MD, Voljavec AS, Lott MT, MacDonald I and Wallace DC, (1992). Leber's hereditary optic neuropathy: a model for mitochondrial neurodeaenerative diseases. FASEB J. 6: 2791-2799.
5. Fukunaga Y, Azuma N, Koshiyama H, Inoue D, Sato H, Yoshimasa Y and Nakao K, (1997). Mitochondrial DNA 3243 mutation is infrequent in Japanese diabetic patients with auditory disturbance. Diabetes Care 20: 1800-1803.
6. Gerbitz KD, van den Ouweland JM, Maassen JA and Jaksch M, (1995). Mitochondrial diabetes mellitus: a review. Biochim. Biophys. Acta 1271: 253-260.
7. Guan MX, Fischel-Ghodsian N and Attardi G, (1996). Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 5: 963-971.
8. Hanna MG, Nelson I, Sweeney MG, Cooper JM, Watkins PJ, Morgan-Hughes JA and Harding AE, (1995). Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. Am. J. Hum. Genet. 56: 1026-1033.
9. Hirai M, Suzuki S, Onoda M, Hinokio Y, Ai L, Hirai A and Ohtomo M, (1996). Mitochondrial DNA 3394 mutation in the NADH dehydrogenase subunit 1 associated with non-insulin-dependent diabetes mellitus. Biochem. Biophys. Res. Commun. 219: 951-955.
10. Jaksch M, Hofmann S, Kaufhold P, Obermaier-Kusser B, Zierz S and Gerbitz KD, (1996). A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus. Hum. Mutat. 7: 358-360.
11. Katagiri H, Asano T, Ishihara H, Inukai K, Anai M, Yamanouchi T and Tsukuda K, (1994). Mitochondrial diabetes mellitus: prevalence and clinical characterization of diabetes due to mitochondrial tRNA(Leu(UUR)) gene mutation in Japanese patients. Diabetologia 37: 504-510.
12. Lindholm E, Cavelier L, Howell WM, Eriksson I, Jalonen P, Adolfsson R and Blackwood DH, (1997). Mitochondrial sequence variants in patients with schizophrenia. Eur. J. Hum. Genet. 5: 406-412.
13. Moraes CT, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N and Lovelace RE, (1993). Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? J. Clin. Invest. 92: 2906-2915.
14. Morten KJ, Cooper JM, Brown GK, Lake BD, Pike D and Poulton J, (1993). A new point mutation associated with mitochondrial encephalomyopathy. Hum. Mol. Genet. 2: 2081-2087.
15. Nakagawa Y, Ikegami H, Yamato E, Takekawa K, Fujisawa T, Hamada Y and Ueda H, (1995). A new mitochondrial DNA mutation associated with non-insulin-dependent diabetes mellitus. Biochem. Biophys. Res. Commun. 209: 664-668.
16. Reardon W, Ross RJ, Sweeney MG, Luxon LM, Pembrey ME, Harding AE and Trembath RC, (1992). Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 340: 1376-1379.
17. Rieder MJ, Taylor SL, Tobe VO and Nickerson DA, (1998). Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Res. 26: 967-973.
18. Shoffner JM, Brown MD, Torroni A, Lott MT, Cabell MF, Mirra SS, Beal MF, Yang CC, Gearing M, Salvo R, (1993). Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics 17: 171-184.
19. Suzuki Y, Suzuki S, Hinokio Y, Chiba M, Atsumi Y, Hosokawa K and Shimada A, (1997). Diabetes associated with a novel 3264 mitochondrial tRNA(Leu)(UUR) mutation. Diabetes Care 20: 1138-1140.
20. Tsukuda K, Suzuki Y, Kameoka K, Osawa N, Goto Y, Katagiri H and Asano T, (1997). Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNA[Leu(UUR)] resion. Diabet. Med. 14: 1032-1037.
21. van den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PA and van de Kamp JJ, (1992). Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet. 1: 368-371.
22. van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D and Froguel P, (1994). 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. Diabetes 43: 746-751.
23. Wallace DC, (1994). Mitochondrial DNA sequence variation in human evolution and disease. Proc. Natl. Acad. Sci. USA 91: 8739-8746.