The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy

Biochemical and Biophysical Research Communications

Volumn 411, Issue 2, 2011, Pages 247-252

  Mezghani, Najla ^a   Mnif, Mouna ^b   Mkaouar Rebai, Emna ^a   Kallel, Nozha ^b   Salem, Ikhlass Haj ^a   Charfi, Nadia ^b   Abid, Mohamed ^b   Fakhfakh, Faiza ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

^b HABIB BOURGUIBA HOSPITAL   (Tunisia)

Author keywords

M.3337G>A; Mitochondrial deletion; Mitochondrial mutations; Skeletal muscle; Wolfram syndrome

Indexed keywords

MITOCHONDRIAL DNA; TRANSFER RNA;

ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CHEEK MUCOSA; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DIABETES MELLITUS; DNA EXTRACTION; GAIT DISORDER; GENE DELETION; GENE MUTATION; HUMAN; LEUKOCYTE; MALE; NEUROLOGIC DISEASE; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKELETAL MUSCLE; TUNISIA; WOLFRAM SYNDROME;

ADULT; AMINO ACID SEQUENCE; CARDIOMYOPATHIES; DNA, MITOCHONDRIAL; HUMANS; MALE; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; NADH DEHYDROGENASE; SEQUENCE DELETION; WOLFRAM SYNDROME;

EID: 79960845288     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2011.06.106     Document Type: Article

References (20)

1. Wolfram D.J., Wagener H.P. Diabetes mellitus, simple optic atrophy among siblings: report of four cases. Mayo Clin. Proc. 1938, 13:715-718.
2. Cremers C.W.R.J., Wijdeveld P.G.A.B., Pinckers A.J.L.G. Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). Acta Paediatr. Scand. 1977, 264:S1-S16.
3. Page M.M.C.B., Asmal A.C., Edwards C.R.W. Recessive inheritance of diabetes: the syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Q. J. Med. 1976, 179:505-520.
4. Gunn T., Bortolussi R., Little J.M., et al. Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus: a syndrome. J. Pediatr. 1976, 89:565-570.
5. Polymeropoulos M.H., Swift R.G., Swift M. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nat. Genet. 1994, 8:95-97.
6. Inoue H., Tanizawa Y., Wasson J. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat. Genet. 1998, 20:143-148.
7. Strom T.M., Hortnagel K., Hofmann S. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum. Mol. Genet. 1998, 7:2018-2021.
8. El-Shanti H., Lidral A.C., Jarrah N., et al. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. Am. J. Hum. Genet. 2000, 66:1229-1236.
9. Bundey S., Poulton K., Whitwell H., et al. Mitochondrial abnormalities in the DIDMOAD syndrome. J. Inherit. Metab. Dis. 1992, 15:315-319.
10. Rötig A., Cormier V., Chatelain P., et al. Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (Wolfram syndrome, MIM 222300). J. Clin. Invest. 1993, 91:1095-1098.
11. Barrientos A., Casademont J., Saiz A., et al. Autosomal recessive Wolfram syndrome associated with an 8.5kb mtDNA single deletion. Am. J. Hum. Genet. 1996, 58:963-970.
12. Hoffmann S., Bezold R., Jaksch M., et al. Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. Genomics 1997, 39:8-18.
13. Lewin H.A., Stewart-Haynes J.A. A simple method for DNA extraction from leukocytes for use in PCR. Biotechniques 1992, 13:522-524.
14. Mkaouar-Rebai E., Tlili A., Masmoudi S., et al. Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases. Biochem. Biophys. Res. Commun. 2007, 355:1031-1037.
15. Sunyaev S., Ramensky V., Koch I., et al. Prediction of deleterious human alleles. Hum. Mol. Genet. 2001, 10:591-597.
16. Ramensky V., Bork P., Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 2002, 30:900-918.
17. Zifa E., Theotokis P., Kaminari A., et al. A novel G3337A mitochondrial ND1 mutation related to cardiomyopathy co-segregates with tRNALeu(CUN) A12308G and tRNAThr C15946T mutations. Mitochondrion 2008, 8:229-236.
18. Taylor R.W., Giordano C., Davidson M.M., et al. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. Am. Coll. Cardiol. 2003, 41:1786-1796.
19. Van Hove J.L., Freehauf C., Miyamoto S., et al. Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene. Eur. J. Pediatr. 2008, 167(7):771-776.
20. Bugiani M., Invernizzi F., Alberio S., et al. Clinical and molecular findings in children with complex I deficiency. Biochim. Biophys. Acta 2004, 1659:136-147.