To date, three models were published that attempted to explain the molecular pathologies associated with DM1. This is partly due to the complex mechanism underlying DM1. 4 Despite clinical similarities, DM1 and DM2 are two distinct disorders, with DM1 being generally more severe than DM2, requiring additional studies to better characterize the differences between these clinical entities.Īlthough the causative genes for both types of myotonic dystrophy are known, at the present time researchers lack a suitable DM1 mouse model that accurately recapitulates all of the molecular and clinical phenotypes of this devastating disease. 1 There are two types of DM, type 1 DM (DM1) is known to be caused by an expansion of a cytosine-thymine-guanine (CTG) trinucleotide repeat in the 3′-untranslated region (3′-UTR) of the myotonic dystrophy protein kinase ( DMPK) gene, 2, 3 while myotonic dystrophy type 2 (DM2) is the result of cytosine-cytosine-thymine-guanosine (CCTG) tetranucleotide expansion in the first intron of the cellular nucleic acid-binding protein ( CNBP) gene, namely zinc finger protein 9 ( ZNF9) gene. The typical clinical presentation includes: myotonia, muscular dystrophy, gradually worsening muscle loss and weakness, posterior cataracts, and endocrine disruptions.
Myotonic dystrophy (DM), the most common form of muscular dystrophy, is a complex autosomal dominant disease with a varied range of symptoms.
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