SNP Shot: Genomic Insights

Phosphoglycerate mutase deficiency is a condition that mainly impacts skeletal muscles, which are responsible for movement. Typically starting in childhood or the teenage years, individuals with this deficiency experience muscle pain or cramps after intense physical exertion. Some individuals also suffer from recurring myoglobinuria, a condition where muscle breakdown releases myoglobin into the bloodstream. This protein is then filtered by the kidneys and excreted in the urine. Untreated myoglobinuria can cause kidney failure.

Muscle biopsies in some cases of phosphoglycerate mutase deficiency reveal tubular aggregates, tiny tube-like structures, within the muscle fibers. The role of these tubular aggregates in the disorder's symptoms is currently unknown.

Inheritance:

The inheritance pattern of this condition is autosomal recessive. This means that both copies of the PGAM2 gene in each cell must have mutations for the disorder to manifest. Individuals with autosomal recessive disorders inherit one mutated copy of the gene from each parent. While the parents are carriers of the mutation, they usually don't exhibit symptoms. However, individuals carrying a single altered copy of the PGAM2 gene might display some characteristics of phosphoglycerate mutase deficiency, such as exercise-induced muscle cramps and myoglobinuria.