ArticleGenetic testing and molecular biomarkers2013
Audiologic and genetic features of the A3243G mtDNA mutation.
Article in Genetic testing and molecular biomarkers, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Mitochondrial Diabetes is Associated with tRNADiabetes, metabolic syndrome and obesity : targets and therapy · 2022Article
- Response: Commentary: Neuromuscular and Muscle Metabolic Functions in MELAS Before and After Resistance Training: A Case Study.Frontiers in physiology · 2020Article
- Audiological and Vestibular Findings in Subjects with MELAS Syndrome.The journal of international advanced otology · 2019Article
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Authors and funding
7 authors.
Funding
Abstract
backgroundMitochondrial mutations have been shown to be responsible for syndromic and nonsyndromic hearing impairment.
aimTo assess the genotypic-phenotypic correlation of mitochondrial DNA mutations in three generations of a single family.
methodsA single family with maternally inherited diabetes and hearing loss was recruited. Genomic DNA was subject to polymerase chain reaction-restriction fragment length polymorphism analysis (ApaI) for A3243G mutation detection and confirmation with direct DNA sequencing. The degree of heteroplasmy for the A3243G mutation in blood DNA samples was quantified. In addition, we reviewed audiological data of A3243G-associated hearing loss cases from the literature to provide details of audiologic features.
resultsSix of 11 family members were recruited. All affected members harbored the A3243G mutation. Four of six members had diabetes. Five of five affected members demonstrated hearing loss ranging from mild to severe. The degree of heteroplasmy ranged from 5.51% to 27.74%.
conclusionsPatients with a greater percentage of heteroplasmy have a trend toward more severe phenotypic presentations. Hearing loss is bilateral, sensorineural, and symmetric. The main audiogram shapes found were sloping. Additional studies are necessary to clarify the relationship between degree of heteroplasmy and phenotypic presentation.
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