Proteomics studies to gain a better understanding of titinopathies

The French consortium dedicated to research into neuromuscular disorders linked to the TTN gene, which encodes titin, reports on its work in the field of proteomics:

• the TTN gene and the disorders associated with it remain highly complex due to significant clinical and genetic heterogeneity;
• the study focused on two specific and very distinct phenotypes: myofibrillar myopathies and arthrogryposes,
• the proteomic profiles of French patients affected by these two subtypes of titinopathy were established using biopsy samples and then compared with those of a control population,
• in arthrogryposes, disturbances are observed in the expression of proteins associated with fibrosis or the actin-myosin complex,
• in myofibrillar myopathies, the abnormalities primarily involve cytoskeletal proteins.

Although this research is highly fundamental, it helps to improve the distinction between the various phenotypes associated with mutations in the TTN gene and could, in future, serve as a reference both for establishing the natural history of these myopathies and for clinical trials.