Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia

Angela D. Bhalla, Alireza Khodadadi-Jamayran, Yanjie Li, David R. Lynch and Marek Napierala. Annals of Clinical and Translational Neurology. doi: 10.1002/acn3.322

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Next-generation sequencing of FRDA mitochondrial genomes revealed a widespread increase in mutation load in patient fibroblasts. Although mtDNA damage alone can have profound consequences within the cell, low expression of FXN may also affect the nuclear genome as recent studies have demonstrated shortening of telomeres in cells derived from FRDA patients.

 Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia