An excellent new paper ‘Making sense of missense variants in TTN-related congenital myopathies‘ (Reece, et al 2021) describes a leap forward in the understanding of how and when mutations in this gene can be linked to congenital myopathies.
The TTN gene provides instructions for making a very large protein in our bodies called ‘titin’. Titin protein plays an important role in skeletal muscles (the muscles we ‘voluntarily’ use for movement) and in cardiac muscle.
As TTN is the largest (giant) gene in our bodies by far, it was difficult in the past to link myopathy symptoms with specific mutations. However with the regular usage nowadays of next generation gene sequencing in diagnosing muscle disease, mutations in TTN have become a much more ‘common’ diagnosis in recent years.
This paper is a thorough and detailed assessment of the emerging, and significant, understanding of the links between myopathy symptoms & TTN genetic mutations, compared with other neuromuscular conditions that may look similar.
Myotubular Trust is very pleased to be able to play our small part in providing funding that contributed to this paper. We can only do this with the assistance of our fantastic supporters – thank you so much.
You can download the full paper here: Making sense of missense variants in TTN‐related congenital myopathies Rees et al. (2021)
