Depending on cell types, clathrin assembles into plaques or produces spherical structures for some unknown reason, just as we do not know how this plasticity is controlled during differentiation.
Researchers at the Institute of Myology have sought to assess the link between the alternative splicing of CLTC gene exon 31 encoding the heavy chain of human clathrin, and the diversity of clathrin structures. They showed that different cell types produce different clathrin structures, and that the ability to form plaques increases with the inclusion of exon 31 in the mature transcript.
They then screened a large number of endocytosis proteins to find out whether a defect in the inclusion or exclusion of exons in the transcripts encoding proteins involved in the endocytosis machinery was involved in certain muscle diseases. They observed a correlation between the absence of CLTC exon 31 splicing and the severity of muscle damage in patients with severe congenital forms of myotonic dystrophy type 1.
