The Role of Mitochondrial Genes in Neurodegenerative Disorders
Open Access
- 1 May 2022
- journal article
- review article
- Published by Bentham Science Publishers Ltd. in Current Neuropharmacology
- Vol. 20 (5) , 824-835
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.Keywords
This publication has 116 references indexed in Scilit:
- The timing of mitochondrial DNA mutations in agingNature Genetics, 2011
- Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohortNeurobiology of Aging, 2010
- Mitochondrial DNA haplogroups and risk of transient ischaemic attack and ischaemic stroke: a genetic association studyThe Lancet Neurology, 2010
- The mitochondrial brain: From mitochondrial genome to neurodegenerationBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2010
- Mitochondrial Localization of PARP-1 Requires Interaction with Mitofilin and Is Involved in the Maintenance of Mitochondrial DNA IntegrityJournal of Biological Chemistry, 2009
- Mitochondria, calcium and cell death: A deadly triad in neurodegenerationBiochimica et Biophysica Acta (BBA) - Bioenergetics, 2009
- mtRF1a Is a Human Mitochondrial Translation Release Factor Decoding the Major Termination Codons UAA and UAGMolecular Cell, 2007
- Mitochondrial dysfunction and oxidative stress in neurodegenerative diseasesNature, 2006
- Mitochondrial DNA mutations in human diseaseNature Reviews Genetics, 2005
- Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosisNature, 1993