Article
Next-generation sequencing of the whole mitochondrial genome identifies functionally deleterious mutations in patients with multiple sclerosis.
PloS one - 1 Jan 2022
Al-Kafaji Ghada, Bakheit Halla F, AlAli Faisal, Fattah Mina, Alhajeri Saad, Alharbi Maram A, Daif Abdulqader, Alsabbagh Manahel Mahmood, Alwehaidah Materah Salem, Bakhiet Moiz
Abstract excerpt
Multiple sclerosis (MS) is an immune-mediated disease of the central nervous system with genetics and environmental determinants. Studies focused on the neurogenetics of MS showed that mitochondrial DNA (mtDNA) mutations that can ultimately lead to mitochondrial dysfunction, alter brain energy metabolism and cause neurodegeneration. We analyzed the whole mitochondrial genome using next-generation sequencing (NGS)...
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