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The Role of Mitochondrial Genes in Neurodegenerative Disorders

Rajesh Kumar, Seetha Harilal, Della Grace Thomas Parambi, S.K. Kanthlal, Md. Atiar Rahman, Αθανάσιος Αλεξίου, Gaber El‐Saber Batiha, Bijo Mathew

2021Current Neuropharmacology18 citationsDOIOpen Access PDF

Abstract

Mitochondrial disorders are clinically heterogeneous, resulting from nuclear gene and mitochondrial mutations that disturb the mitochondrial functions and dynamics. There is a lack of evidence linking mtDNA mutations to neurodegenerative disorders, mainly due to the absence of noticeable neuropathological lesions in postmortem samples. This review describes various gene mutations in Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and stroke. These abnormalities, including PINK1, Parkin, and SOD1 mutations, seem to reveal mitochondrial dysfunctions due to either mtDNA mutation or deletion, the mechanism of which remains unclear in depth.

Topics & Concepts

PINK1Amyotrophic lateral sclerosisParkinMitochondrial DNAMitochondrionMitochondrial diseaseMutationGeneSOD1GeneticsDiseaseBiologyParkinson's diseaseMedicineNeurosciencePathologyMitochondrial Function and PathologyAmyotrophic Lateral Sclerosis ResearchNeurological diseases and metabolism