Role of mitochondrial variation in maternally inherited diabetes and deafness syndrome.

Abstract

Maternally inherited diabetes and deafness syndrome is caused by the mitochondrial deoxyribonucleic acid mutation 3243 A>G (where A = adenine and G = guanine). The degree of heteroplasmy of the mitochondrial deoxyribonucleic acid may correlate with the rate of progression of the hearing loss. This has important implications for counselling patients with this pathology. Cochlear implantation is a successful method of rehabilitation for patients with hearing loss as part of this syndrome.

• Authors: T Howes, C Madden, S Dasgupta, S Saeed, V Das
• Journal: The Journal of laryngology and otology (J Laryngol Otol) Vol. 122 Issue 11 Pg. 1249-52 (Nov 2008) ISSN: 1748-5460 [Electronic] England
• PMID: 18950542 (Publication Type: Case Reports, Journal Article)

Chemical References

• DNA, Mitochondrial

Topics

• Adult
• Cochlear Implantation (methods)
• DNA, Mitochondrial (genetics)
• Diabetes Mellitus (genetics, surgery)
• Female
• Hearing Loss, Sensorineural (genetics, surgery)
• Humans
• Mitochondrial Diseases (genetics, surgery)
• Pedigree
• Phenotype
• Point Mutation (genetics)
• Syndrome
• Treatment Outcome