Mechanosensitive ion channel PIEZO1 and rare genetic disorders.

Abstract

Lower urinary tract symptoms (incontinence, urgency, frequency) cost the US $10 billion annually. Detrusor underactivity (DU) is a weak bladder contraction with slow, incomplete bladder emptying that often requires bladder emptying by catheter ± surgeries since drug therapies are ineffective. DU affects all ages by myogenic or neurogenic etiologies, leading to UTIs, stones, hydronephrosis ± vesicoureteral reflux, renal insufficiency/failure. Barriers exist to progress in treatment, with poor genetics and mechanistic understanding, and few animal models of disease.