Tissue specific distribution of the 3243A->G mtDNA mutation

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.

BACKGROUND The 3243A-->G MTTL1 mutation is the most common heteroplasmic mitochondrial DNA (mtDNA) mutation associated with disease. Previous studies have shown that the percentage of mutated mtDNA decreases in blood as patients get older, but the mechanisms behind this remain unclear. OBJECTIVES AND METHOD To understand the dynamics of the process and the underlying mechanisms, an accurate f...

Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model.

Mitochondrial DNA (mtDNA) mutations manifest with vast clinical heterogeneity. The molecular basis of this variability is mostly unknown because the lack of model systems has hampered mechanistic studies. We generated induced pluripotent stem cells from patients carrying the most common human disease mutation in mtDNA, m.3243A>G, underlying mitochondrial encephalomyopathy, lactic acidosis, and ...

Postlingual Hearing Loss as a Mitochondrial 3243A>G Mutation Phenotype

BACKGROUND The prevalence of isolated hearing loss (HL) associated with the m.3243A>G mutation is unknown. The aim of this study was to assess the frequency and heteroplasmy level of the m.3243A>G mutation in a large group of Polish patients with postlingual bilateral sensorineural HL of unidentified cause. METHODOLOGY/PRINCIPAL FINDINGS A molecular search was undertaken in the archival blood...

Three families with ‘de novo’ m.3243A > G mutation

The m.3243A > G mutation is the most prevalent, disease-causing mitochondrial DNA (mtDNA) mutation. In a national cohort study of 48 families harbouring the m.3243A > G mutation, we identified three families in which the mutation appeared to occur sporadically within these families. In this report we describe these three families. Based on detailed mtDNA analysis of three different tissues usin...

Three families with ‘de novo’ m.3243A N G mutation