Muscular dystrophies are a set of diseases that result in progressive weakness and loss of muscle mass. The main symptom of muscular dystrophies is progressive muscle weakness and begins at different ages and in different muscle groups. One of the most diseases is Duchenne muscular dystrophy (DMD) which is more common in young boys with a modality of 8.3 in 1000,000. One-third of boys with DMD harbor spontaneous mutation without a family history. Other dystrophies include Becker muscular dystrophy, Myotonic, Facioscapulohumeral (FSHD), Congenital and Limb-girdle. Different muscular dystrophies result from various genetic mutations. Most mutations are inherited but some are subject to sudden abnormal changes. Muscular dystrophy happens in all genders, ages and races, and tends to pass on to the offspring. What's worse, muscular dystrophies can not be cured yet, and cause a lot of inconvenience in daily life.
Muscular dystrophy is a group of diseases with different gene variants, and most of the mutations have been found. DMD is the largest known human gene and encodes dystrophin, forming a component of the dystrophin-glycoprotein complex (DGC). DGC can bridge the inner cytoskeleton and the extracellular matrix, and protect the muscle from strain-related damage during exertion. In most cases, DMD mutations that preserve the reading frame leads to the milder Becker muscular dystrophy. While mutations of DMD that disrupt the reading frame cause more severe DMD. In addition, it has been reported classic myotonic dystrophy is related to a CTG trinucleotide repeat in the 3' untranslated region of the DMPK gene and proximal myotonic myopathy is associated with a CCTG tetranucleotide repeat within an intron of CNBP. The CTG trinucleotide repeat will not affect the function of the DMPK gene, but form hairpin structures that bind to proteins that regulate the splicing machinery, such as members of the muscle blind family of RNA-binding proteins and chloride channel CLCN1. CCTG tetranucleotide repeat also forms a hairpin structure, binding proteins that regulate the splicing machinery. There are also other variants affecting different types of muscular dystrophy, including DUX4 and SMCHD1 in Facioscapulohumeral dystrophy, LAMA2 in Congenital muscular dystrophy with merosin deficiency, and so forth.
To have a better understanding of gene mutations related to different muscular dystrophy, our platform provides the targeted DNA sequencing by the Illumina MiSeq or Ion PGM system. You can choose genes of interest for your research from our comprehensive muscular dystrophies panel.
For more information about the Custom Muscular Dystrophy Panel or need other amplification requirements, please contact us.