PIEZO2 gene and its role in the development of distal arthrogryposis: A literature review

BACKGROUND:PIEZO1 and PIEZO2 are mechanosensitive ion channel proteins; in humans, they are encoded by genes with identical names. PIEZO proteins convert mechanical signals into biochemical cellular responses following transduction. Recent data highlight the importance of this family of ion channel proteins in the regulation of physiological processes; however, many mechanisms remain unknown. Modern studies have proven thatPIEZO2mutations lead to the development of various forms of distal arthrogryposis. AIM:To analyze publications containing information onPIEZO2gene and its role in the development of distal forms of arthrogryposis. MATERIALS AND METHODS:This study analyzed the results ofaliterature search in the open scientific literature databases of PubMed, Cochrane Library, and eLibrary. Consequently, 40 foreign, and domestic scientific sources were extracted from 1969 to 2022. RESULTS:This study showed the relationship betweenPIEZO2mutations and the development of the distal forms of arthrogryposis. The study also presented the types of distal arthrogryposis and their clinical manifestations depending on the mutation of this gene.PIEZO2mutations with decreased function cause distal arthrogryposis with impaired proprioception and taction (autosomal recessive type of inheritance).PIEZO2mutations with gain-of-function cause distal arthrogryposis of types 3 and 5 (autosomal dominant inheritance). CONCLUSIONS:Anintegrated approach to the diagnosis and molecular genetic study will allow us to choose the best techniques and treatment of patients with this pathology. The results are useful for doctors of various specialties.