Since 2011, Myotubular Trust has supported Dr Jocelyn Laporte’s “High throughput gene sequencing to identify new genes that cause myotubular and centronuclear myopathies”. While this project is still ongoing in their Strasbourg laboratory, they have validated their strategy in two recent studies. In the attached news update on Dr Laporte’s 2013 funded project,  Dr Laporte and his team report on the success of establishing this proof of concept. Their findings are summarised here below:

Identification of the causative gene in the “Samaritan myopathy”, sharing common features with centronuclear myopathies (full published article)

Samaritan myopathy which is very like severe myotubular myopathy but has an “inverse path”, with babies born severely affected, but progressively improving until they are minimally affected as adults. Finding this gene is a really important step in understanding why these children improve so fundamentally, and whether this kind of improvement might be repeated in myotubular myopathy.

Next generation sequencing for molecular diagnosis of neuromuscular diseases (full published article)

The grant to Jocelyn Laporte (who discovered the mtm1 gene in 1996) is to continue to invest in new next generation sequencing technology to establish that it can be used as a faster, more cost effective, more comprehensive method of genetic diagnosis in myotubular and centronuclear myopathy.

An example from this next generation sequencing of a mutation being identified that causes myotubular myopathy. This particular mutation is at the site of the MTM1 gene in the DNA molecule (that has in total 3 billion letters) and the mutation corresponds to the lack of the 4 letters “AAAG”. Using next generation sequencing to find these mutations proves that this technology works for our group of conditions.