| Literature DB >> 32397749 |
Rebeca Martín-Jiménez1,2, Olivier Lurette1,2, Etienne Hebert-Chatelain1,2.
Abstract
Mitochondria are the only organelles that contain their own genetic material (mtDNA). Mitochondria are involved in several key physiological functions, including ATP production, Ca2+ homeostasis, and metabolism of neurotransmitters. Since these organelles perform crucial processes to maintain neuronal homeostasis, mitochondrial dysfunctions can lead to various neurodegenerative diseases. Several mitochondrial proteins involved in ATP production are encoded by mtDNA. Thus, any mtDNA alteration can ultimately lead to mitochondrial dysfunction and cell death. Accumulation of mutations, deletions, and rearrangements in mtDNA has been observed in animal models and patients suffering from Parkinson's disease (PD). Also, specific inherited variations associated with mtDNA genetic groups (known as mtDNA haplogroups) are associated with lower or higher risk of developing PD. Consequently, mtDNA alterations should now be considered important hallmarks of this neurodegenerative disease. This review provides an update about the role of mtDNA alterations in the physiopathology of PD.Entities:
Keywords: Parkinson's disease; mitochondria; mtDNA
Year: 2020 PMID: 32397749 DOI: 10.1089/dna.2020.5398
Source DB: PubMed Journal: DNA Cell Biol ISSN: 1044-5498 Impact factor: 3.311