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Lead investigator

Collaborators & Co-Investigators

• Alexie Gagné, BSc
• Marjorie Labrecque, MSc

Research Sites & Affiliations

• Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, Quebec

Budget: $100,000

Disorders: Genetic myopathies

Research Areas: Understand Diagnosis and Disorder Progression

Abstract: 

Genes contain all of the information necessary to produce a protein. Changes in the spelling of genes can heavily change protein functions and might cause health problems. Rare neuro/muscle disorders are caused by changes in the spelling of genes important for keeping muscles healthy. With the advance of technology, we are able to diagnosis patients by identifying differences in their genetic code. We and others have shown new variants (or genetic code differences) in the gene MLIP (Muscular LMNA-Interacting Protein), thought to be liked to muscle related disorders (myopathies). Little is known yet about MLIP’s function, except that is highly expressed within the muscle. It interacts with the lamin protein, also known to be important for heart and muscles functions. We believe the altered protein is associated with a myopathy seen in children and adult patients. MLIP has only recently been linked with myopathies. Unfortunately, we do not know enough of MLIP role. As so, we will study the effect of MLIP mutations in our laboratory. More specifically, we will reproduce genetic changes found in existing patient’s genes in a cellular model. This will allow us to see how muscles are formed, maintained and affected by MLIP. We believe the study of this mutation will greatly improve our understanding of myopathies. It will also improve patient diagnosis. It will contribute to a better understanding of the role of MLIP in certain myopathies.

Impact: