Issue: 2011, Vol. 16, No. 4

Egorov М. В., Polishchuk Р. С.

ULTRASTRUCTURAL CHARACTERISTICS OF CANALICULAR APPARATUS IN AARSKOG - SCOTT SYNDROME

Keywords

Aarskog-Scott syndrome, FGD1, canalicular apparatus, electronic microscopy

Abstarct

Authors analyzed the ultrastructural organization of canalicular appararus in model cellular system in Aarskog - Scott syndrome. It was determined that FGD1 activity defi ciency in the pathogenesis of faciogenital dysplasia resulted in structural alterations of canalicular apparatus namely to the increasing number of cisterns in transcanalicular apparatus compartment, to the accumulation of tubular membrane profi les and cistern local dilation. The data obtained confi rmed FGD1 signifi cance in the regulation of postcanalicular apparatus transport.