<i>PIEZO2</i> 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 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 regulation physiological processes; however, many mechanisms remain unknown. Modern studies have proven thatPIEZO2mutations lead to development various forms distal arthrogryposis.
 AIM:To analyze publications containing information onPIEZO2gene its role MATERIALS AND METHODS:This study analyzed results ofaliterature search open scientific literature databases PubMed, Cochrane Library, eLibrary. Consequently, 40 foreign, domestic sources were extracted from 1969 2022.
 RESULTS:This showed relationship betweenPIEZO2mutations arthrogryposis. The also presented types arthrogryposis their clinical manifestations depending on mutation gene.PIEZO2mutations decreased function cause impaired proprioception taction (autosomal recessive type inheritance).PIEZO2mutations gain-of-function 3 5 dominant inheritance).
 CONCLUSIONS:Anintegrated approach diagnosis molecular genetic will allow us choose best techniques treatment patients pathology. useful for doctors specialties.