Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients

Mitochondrion
Inder SinghAchal K Srivastava

Abstract

The loss of function mutations (biallelic) in frataxin (FXN) has primarily been implicated in Friedreich's ataxia (FRDA), an autosomal recessive cerebellar ataxia. The protein product of FXN is a nuclear-encoded mitochondrial protein required for the biogenesis of iron- clusters (Fe-S). FRDA is characterized by neurological and non-neurological features which show variable expression in affected individuals. An inverse relationship has been demonstrated between GAA repeat size and age at onset and explains 50% variability of the age at onset. MtDNA variations and haplogroups could be one of the contributory factors to explain the remaining heterogeneity in FRDA, since mitochondrial oxidative stress is thought to be involved in the pathogenesis of FRDA. In our study, targeted resequencing of the D-loop and coding region of mitochondrial genes (ND1-6 and ATP) was conducted in 30 genetically confirmed FRDA patients and 62 ethnicity-matched unrelated healthy controls to identify the functionally important mtDNA variations and to trace the mitochondrial lineage of Indian FRDA patients. Cumulative mitochondrial SNP scores were computed for the identified variations in the functional region and haplogroups were determined by Haplogrep...Continue Reading

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Citations

Jul 8, 2016·Annals of Clinical and Translational Neurology·Angela D BhallaMarek Napierala
Apr 27, 2017·Human Molecular Genetics·Mittal J JasoliyaGino A Cortopassi
Nov 11, 2018·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·A RamosM Lima
May 21, 2019·Frontiers in Neuroscience·Sylvia Boesch, Elisabetta Indelicato
Mar 16, 2019·Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine·Deepti PathakMoganty R Rajeswari
Dec 3, 2020·Frontiers in Molecular Biosciences·Frances M Smith, Daniel J Kosman

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