Posts by Paul Szauter, PhD, Chief Scientific Officer, EquiSeq

A Genome Wide Association Study (GWAS) of Recurrent Exertional Rhabdomyolysis (RER) identified a region on chromosome 16 as the only part of the genome associated with RER [1]. One of the populations in the study showed an association between RER and five Single Nucleotide Polymorphisms (SNPs) that define a 71.6 kb interval within the 822…

Several recent studies address the mechanism of muscle damage in filaminopathy. Filaminopathy is a term that describes muscle disorders resulting from mutations in the FLNC gene, which encodes filamen C. Two different clinical disease states are included in filaminopathy: Myofibrillar Myopathy 5 (MFM5) and Distal Myopathy 4 (DM4). Studies on the mechanism of muscle damage in filaminopathy…

How can you figure out the chances of different genotypes when breeding horses? Monohybrid Cross It’s easy for one gene. Let’s say that there is a stallion that has one copy of one of the genetic variants associated with PSSM2, the P2 variant (MYOT-S232P). This stallion is heterozygous (n/P2), meaning that he has one normal…

Filamins are a family of actin-binding proteins. In humans and other mammals, there are three filamins: filamin A, filamin B, and filamin C. Filamins A and B are widely expressed, while filamin C expression appears limited to skeletal and cardiac muscle. The figure below (adapted from [1]) shows the domain structure of filamin C. Filamins…

In human patients, mutations in the gene encoding filamin C (FLNC) are associated with Myofibrillar Myopathy 5 [1]. In a prior blog post, we reviewed the human mutations in FLNC associated with the disease state Myofibrillar Myopathy 5 (MFM5) and various cardiomyopathies. We also presented the specific changes associated with the equine P3 allele of…

Is PSSM2 genetic? By genetic, we mean that it is an inherited condition, transmitted from parents to offspring rather than resulting exclusively from environmental conditions, such as diet or exposure to toxins or pathogens. What do we mean by PSSM2? PSSM2 is an abbreviation for Polysaccharide Storage Myopathy type 2 [1]. It is a disease…

Myotilin is a muscle protein encoded by the MYOT gene. Myotilin is a structural protein of muscle that localizes to the Z discs. Myotilin contains two Immunoglobulin-like (Ig-like) domains similar to those of palladin, myopalladin, titin, and other proteins. The amino-terminal portion of myotilin contains a large number of serine residues and is not similar…