Authors:

sarah nelson

Date Created:

Not specified

Course Title:

Professor:

Not specified

About Paper:

Congenital myotonia is a neuromuscular disease that causes the muscles to remain tense after a voluntary contraction for some time after the initial event. This is typically a result of dysfunction in chloride channels in the skeletal muscle membranes; these channels help maintain a stable charge across the membrane to prevent spontaneous action potentials. Variants in the CLCN1 gene (encoding a chloride channel protein) are associated with congenital myotonia in a myriad of species, including humans, dogs, and the well-known fainting goats. Recently, a domestic shorthair cat presented with clinical signs that align with congenital myotonia; the cause of this cat's disease was unknown but speculated to be genetic. Therefore, DNA from this cat was subjected to whole genome sequencing, and the data examined for causative variants private to this cat, compared to >100 other feline genomes (all assumed to be unaffected by congenital myotonia). A plausible causal variant was identified in this cat's CLCN1 gene, specifically a homozygous missense variant (ChrA2:157,195,615 c.979G>T, p.Val327Phe). In silico testing was explored to predict the effect of this amino acid change, which likely impairs the ion channel gate function of the protein. Given that this cat was found as a stray, it can only be speculated that this homozygous variant resulted from inbreeding, which is not uncommon in feral cat populations. This work adds to our knowledge of congenital myotonia in cats and across all mammals, which will allow for the continued exploration of new diagnostic and therapeutic measures in the future. Keywords: Neuromuscular Disease; Veterinary Genetics; Chloride Channel

Source:

Purdue University / 2025

Topics:

No topics listed

Co-authors:

sarah nelson