Document Detail


Role of mitochondrial variation in maternally inherited diabetes and deafness syndrome.
MedLine Citation:
PMID:  18950542     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Journal of laryngology and otology     Volume:  122     ISSN:  1748-5460     ISO Abbreviation:  J Laryngol Otol     Publication Date:  2008 Nov 
Date Detail:
Created Date:  2008-10-27     Completed Date:  2009-01-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8706896     Medline TA:  J Laryngol Otol     Country:  England    
Other Details:
Languages:  eng     Pagination:  1249-52     Citation Subset:  AIM; IM    
Affiliation:
University Department of Audiological Medicine, Manchester Royal Infirmary, UK.
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MeSH Terms
Descriptor/Qualifier:
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
Chemical
Reg. No./Substance:
0/DNA, Mitochondrial

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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