The Role of Mitochondrial Genes in Neurodegenerative Disorders.
PMID 34503413 | PMCID PMC9881096 | DOI 10.2174/1570159X19666210908163839 · Current neuropharmacology · 2022 · View on PubMed ↗
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PINK1 | “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.” | 0.98 | hgnc_dict_v1 |
| gene | SOD1 | “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.” | 0.98 | hgnc_dict_v1 |
| phenotype | stroke | “This review describes various gene mutations in Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and stroke.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | multiple sclerosis | “This review describes various gene mutations in Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and stroke.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | amyotrophic lateral sclerosis | “This review describes various gene mutations in Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and stroke.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Alzheimer disease | “This review describes various gene mutations in Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and stroke.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | Parkinson disease | “This review describes various gene mutations in Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and stroke.” | 0.93 | phenotype_alias_lexicon_v2 |