Intestinal pseudo-obstruction with deficient smooth muscle alpha-actin.
We describe a 48-year-old woman with chronic constipation since early childhood who has an intestinal myopathy associated with a hitherto undescribed absence by immunostaining of smooth muscle alpha-actin confined to the intestinal circular muscle. There were no abnormalities in other contractile proteins (myosin, tropomyosin, filamin, caldesmon or desmin) and despite the abnormality of a contractile protein isoform in the circular muscle, no significant morphological changes were identified by light microscopy or ultrastructural examination. A possible developmental mechanism for the observed change is proposed. The use of specific antibodies to isoforms of contractile proteins may have potential value in the study of intestinal myopathies.
Smith
V V
VV
Hospital for Sick Children, Department of Histopathology, London, UK.
Lake
B D
BD
Kamm
M A
MA
Nicholls
R J
RJ
D000199:Actins / Q000032:analysis*; D002908:Chronic Disease; D005260:Female; D006801:Humans; D007124:Immunoenzyme Techniques; D007418:Intestinal Pseudo-Obstruction / Q000378:metabolism* / Q000473:pathology*; D007583:Jejunum / Q000737:chemistry / Q000473:pathology; D008875:Middle Aged
D000199:Actins