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Mechanosensation and joint deformities

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Description Dysfunction of a mechanosensor in sensory neurons causes joint contracture Arthrogryposis is a condition that is characterized by limitation in the range of joint movement owing to shortening of… Click to show full abstract

Description Dysfunction of a mechanosensor in sensory neurons causes joint contracture Arthrogryposis is a condition that is characterized by limitation in the range of joint movement owing to shortening of connective tissue, tendon, and/or muscle. This genetic disorder affects 1 in 3000 live births globally (1). Distal arthrogryposis (DA) is a subtype of arthrogryposis that predominantly affects the joints of the distal limbs, including wrists, hands, ankles, and feet. Mutations in genes encoding proteins of the skeletal muscle contractile apparatus were initially linked to DA. However, mutations in genes with important functions outside of skeletal muscle have recently been shown to cause DA as well (1, 2) (see the figure). One such case is analyzed in the study by Ma et al. (3) on page 201 of this issue, which finds that excessive activity of piezo-type mechanosensitive ion-channel component 2 (PIEZO2) in sensory neurons can cause DA.

Keywords: mechanosensation joint; arthrogryposis; muscle; joint deformities

Journal Title: Science
Year Published: 2023

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