Postdoctoral fellow in Neurology
Award-winning publication: Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians
Published in: Annals of Neurology
Congenital myopathies constitute a group of heterogenous hereditary muscular diseases whose genetic cause often remains unknown. These diagnostic limitations make it difficult to establish a clear long-term prognosis, creating a significant source of uncertainty and stress for patients and their loved ones. Despite current treatment therapies, the diseases are incurable and often involve very serious consequences for patients. Still, a number of drug options are being explored to improve their quality of life. David Pellerin and his team have identified a new type of congenital myopathy in Quebecers caused by a founder mutation in the TNNT1 gene, which codes a protein of the muscle contraction system known as troponin T. Patients with the mutation experience very slowly progressing muscle weakness and joint contractures associated with a predisposition to rhabdomyolysis—a condition that may be prevented with dantrolene, a commercially available muscle relaxant. The identification of the disease also led to the development of a zebrafish model that will be used in the upcoming research stages to determine other potentially effective treatments in humans.