The Role of the Rare Variants in the Genes Encoding the Alpha-Ketoglutarate Dehydrogenase in Alzheimer's Disease.
Alzheimer
DLD
alpha-ketoglutarate dehydrogenase complex
brain tissue
dementia
rare variants
αKGDHc
Journal
Life (Basel, Switzerland)
ISSN: 2075-1729
Titre abrégé: Life (Basel)
Pays: Switzerland
ID NLM: 101580444
Informations de publication
Date de publication:
06 Apr 2021
06 Apr 2021
Historique:
received:
23
03
2021
revised:
02
04
2021
accepted:
03
04
2021
entrez:
30
4
2021
pubmed:
1
5
2021
medline:
1
5
2021
Statut:
epublish
Résumé
There is increasing evidence that several mitochondrial abnormalities are present in the brains of patients with Alzheimer's disease (AD). Decreased alpha-ketoglutarate dehydrogenase complex (αKGDHc) activity was identified in some patients with AD. The αKGDHc is a key enzyme in the Krebs cycle. This enzyme is very sensitive to the harmful effect of reactive oxygen species, which gives them a critical role in the Alzheimer and mitochondrial disease research area. Previously, several genetic risk factors were described in association with AD. Our aim was to analyze the associations of rare damaging variants in the genes encoding αKGDHc subunits and AD. The three genes (
Identifiants
pubmed: 33917565
pii: life11040321
doi: 10.3390/life11040321
pmc: PMC8067443
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Hungarian National Brain Research Program
ID : KTIA_13_NAP-A-III/6
Organisme : Hungarian Academy of Sciences and the National Research
ID : OTKA PD 134449
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