Alterations in smooth muscle contractile and cytoskeleton proteins and interstitial cells of Cajal in megacystis microcolon intestinal hypoperistalsis syndrome

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

“…Microcolon and intestinal malrotation have also been described [1]. Previous histopathological studies have observed increased numbers of ganglion cells in the submucosal and myenteric plexuses [7,8]. Thinning of the intestinal longitudinal muscle layer and increased connective tissue proliferation between the intestinal smooth muscle layers have also been observed [7].…”

“…On electron microscopy, ‘central core' vacuolar degeneration in the center of smooth muscle cells has been described in smooth muscle cells in the bowel and bladder [7,9,10]. Immunohistochemical staining with antibodies against α-smooth muscle actin and caldesmon has shown markedly reduced staining in the longitudinal and circular layers of the small and large bowel and bladder [8,9,10]. Recently familial [11,12,13] and de novo [13,14] ACTG2 mutations have been implicated in the etiology of familial visceral myopathy (FVM) as well as MMIHS.…”

Enteric nervous system and developmental abnormalities in childhood

“…Several subsequent reports have confirmed this [165,170,171]. Other investigators have reported absence or marked reduction in the a-smooth muscle actin and other contractile and cytoskeletal proteins in the smooth muscle layers of MMIHS bowel [165,171]. Contractile and cytoskeletal proteins are important structural and functional components of smooth muscle cells and play a vital role in the interaction of the filaments in smooth muscle contraction.…”

“…Because NO is a mediator of IAS relaxation, it is likely that its absence within the IAS muscle has a major role in the development of IASA. Oue and Puri [163] have reported defective innervation of the neuromuscular junction of the IAS in these patients while Pitrowska et al [165] have reported altered distribution of c-kit positive interstitial cells of Cajal. Fig.…”

Distribution of interstitial cells of Cajal in the bladders of fetal rats with retinoic acid induced myelomeningocele

“…[7,8] Several studies have shown that ICCs are widely distributed in the urinary tract of animals and humans. [5,[9][10][11][12][13] Although the gastrointestinal and bladder ICCs seem to share the same morphological and receptor expressions, they function differently. [14] Different neurological and functional conditions of the bladder have been associated with changes in the number of ICCs.…”