Developmental dysplasia of the hip (DDH) is one of the most common congenital skeletal malformations that covers a spectrum of hip disorders ranging from mild dysplasia to irreducible dislocation. DDH is a common cause of osteoarthritis (OA) of the hip joint. Numerous DDH candidate genes and loci have been identified by case-control and genomewide association studies. However, its etiology remains unclear. Recently, It has been reported that mutations in LRP1 cause DHH. LRP1 is a transmembrane endocytosis receptor involved in a variety of cellular processes, such as proliferation, differentiation, and metabolism.
Yan W, Zheng L, Xu X, Hao Z, Zhang Y, Lu J, Sun Z, Dai J, Shi D, Guo B, Jiang Q
タイトル
Heterozygous LRP1 deficiency causes developmental dysplasia of the hip by impairing triradiate chondrocytes differentiation due to inhibition of autophagy.
