Plectin is a large protein that stabilises the position of intermediate filaments inside the cell. An Austrian team has reviewed this proteinâs involvement in the area of neuromuscular disease and beyond:
- mutations of the PLEC gene (that codes plectin) can be responsible for a type of limb-girdle muscular dystrophy (LGMD type R17), myasthenic syndrome, and/or histological lesions suggesting myofibrillar myopathy.
- the plectinopathies can, in isolation or in combination with muscular inivolvement, involve skin lesions (epidermolysis bullosa simplex) or skin appendage lesions (ungual dystrophy), or even pyloric atresia.
- conversely, and due to the very common occurrence non-pathogenic variants in this gene, one requires a body of evidence to confirm the plectinopathy diagnosis.
Muscle-Related Plectinopathies. Zrelski MM, Kustermann M, Winter L. Cells. 2021 (Sept).
