Healthy Living

Study Finds that an Abnormality in RNA May Lead to Congenital Myotonic Dystrophy

Causes of the Disease

The most common form of DM referred to as DM1 is caused by a mutation in the dystrophin protein kinase (DMPK)  gene that is located on chromosome 19q and is trinucleotide repeat expansion. In trinucleotide repeat expansion, certain genes or introns will repeat in what is an excess of the normal threshold, this is known as a dynamic mutation. It’s caused by slippage during DNA replication, also known as copy choice DNA replication. These mutations lead to a general degeneration of nerve cells over the life of the patient.