After some doctors did a clinical, biochemical, and genetic tests to babies, they have discovered a new type congenital muscular dystrophy. It was said to be a result of mutations in the INPP5K gene.
Medical News Today has reported that doctors found a very rare case in five persons from four different families out of millions. They found out that the mutations in the INPP5K gene have made way for a new kind of congenital muscular dystrophy. This new type of congenital muscular dystrophy presents short stature, intellectual disability, and cataracts.
Though these characteristics can be seen with related syndromes, dystroglycanopathies, and Marinesco-Sjögren syndrome, sequencing has exposed that it was indeed because of the unique mutation in the gene INPP5K. The new congenital muscular dystrophy was in every involved member of each family.
For those who do not know, a muscular dystrophy is a very rare disease. It is the type of dystrophy that attacks the muscles making it weaker and it is inevitable wasted because it does not function. This disease has a really wide range of biological features, symptoms, and genetic origins.
According to News Medical, doctors found out the new type of congenital muscular dystrophy because of the uniqueness of INPP5K gene. This particular gene is responsible for regulating the signaling of response to factors like the insulin, and the protein trafficking.
The known congenital muscular dystrophy is one example of muscular dystrophies. They are considered the weakening of muscles of a person from the beginning of birth or close to birth. The genes have mutated because they are present to make proteins for building and maintaining muscles. They are also responsible for developing the eyes and the brain. Most genes that are part of congenital muscular dystrophy are accountable for sustaining the relationship between muscle fibers.
Doctors are seeing a new light with this new discovery. They are hoping to find new ways to treat this disruption in genes. They would probably develop a new type of therapy to cure diseases.
