APOL1 kidney risk variants induce cell death via mitochondrial translocation and opening of the mitochondrial permeability transition pore
SS Shah, H Lannon, L Dias, JY Zhang… - Journal of the …, 2019 - journals.lww.com
Background Genetic Variants in Apolipoprotein L1 (APOL1) are associated with large
increases in CKD rates among African Americans. Experiments in cell and mouse models
suggest that these risk-related polymorphisms are toxic gain-of-function variants that cause
kidney dysfunction, following a recessive mode of inheritance. Recent data in trypanosomes
and in human cells indicate that such variants may cause toxicity through their effects on
mitochondria. Methods To examine the molecular mechanisms underlying APOL1 risk …
increases in CKD rates among African Americans. Experiments in cell and mouse models
suggest that these risk-related polymorphisms are toxic gain-of-function variants that cause
kidney dysfunction, following a recessive mode of inheritance. Recent data in trypanosomes
and in human cells indicate that such variants may cause toxicity through their effects on
mitochondria. Methods To examine the molecular mechanisms underlying APOL1 risk …