Is There a Functional Role of Mitochondrial Dysfunction in the Pathogenesis of ARPKD?

Defects of renal tubular homeostasis and cystogenesis in the Pkhd1 knockout

“… 52 , 53 The male S3 segments in mice appear to have better mitochondrial function and higher lysosomal activity, features controlled by androgens, which in male mice may provide a critical capacity to suppress cyst formation in metabolically stressed tissue. 48 , 54 , 55 Signs of diminished lysosomal and mitochondrial function were also detected in ARPKD patients, 56 , 57 , 58 and recently, FPC protein function was linked to mitochondrial performance. Protein fragments of the FPC cytoplasmic domain were shown to localize in mitochondria, where they can modify mitochondrial morphology and signal to suppress renal cystogenesis.…”