Possible role of the mitochondrial genome in the pathogenesis of autosomal dominant polycystic kidney disease.
Nephrology (Carlton)
; 26(11): 920-930, 2021 Nov.
Article
in En
| MEDLINE
| ID: mdl-34331378
ABSTRACT
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic renal disease in adults and is due to heterozygous germ line variants in either PKD1, PKD2 or rarely other genes. It is characterized by marked intra-familial disease variability suggesting that other genetic and/or environmental factors are involved in determining the lifetime course ADPKD. Recently, research indicates that polycystin-mediated mitochondrial dysfunction and metabolic re-programming contributes to the progression of ADPKD. Although biochemical abnormalities have gained the most interest, variants in the mitochondrial genome could be one of the mechanisms underlying the phenotypic variability in ADPKD. This narrative review aims to evaluate the role of the mitochondrial genome in the pathogenesis of APDKD.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Polycystic Kidney, Autosomal Dominant
/
Energy Metabolism
/
TRPP Cation Channels
/
Genome, Mitochondrial
/
Kidney
/
Mitochondria
Type of study:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Animals
/
Humans
Language:
En
Journal:
Nephrology (Carlton)
Journal subject:
NEFROLOGIA
Year:
2021
Document type:
Article
Affiliation country:
Australia