Hirschsprung's disease, Down syndrome, and missing heritability: too much collagen slows migration.

摘要: Hirschsprung's disease (HSCR) causes functional intestinal obstruction due to the absence of enteric nervous system (ENS) in distal bowel and is usually diagnosed shortly after birth or during childhood. While several genetic nongenetic factors have been linked HSCR, underlying mechanisms that prevent ENS precursors from colonizing fetal development are not completely understood many affected children. In this issue JCI, Soret colleagues identify a new mechanism HSCR-like mice involves deposition excess collagen VI intestine by migrating as they colonize bowel. Remarkably, their findings may explain some so-called missing heritability HSCR suggest for increased incidence children with Down syndrome (trisomy 21).