Myotonic Dystrophies 1 and 2: Complex Diseases with Complex Mechanisms
نویسندگان
چکیده
منابع مشابه
Myotonic Dystrophies 1 and 2: Complex Diseases with Complex Mechanisms
Two multi-system disorders, Myotonic Dystrophies type 1 and type 2 (DM1 and DM2), are complex neuromuscular diseases caused by an accumulation of expanded, non-coding RNAs, containing repetitive CUG and CCUG elements. Similarities of these mutations suggest similar mechanisms for both diseases. The expanded CUGn and CCUGn RNAs mainly target two RNA binding proteins, MBNL1 and CUGBP1, elevating ...
متن کاملMyotonic dystrophies.
Myotonic dystrophies or dystrophia myotonica (DM) is a clinical syndrome that includes myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), myotonic dystrophy type 3 (DM3), and so forth. The terminology was recommended by the new nomenclature for myotonic dystrophies of an International Panel for Consensus. Previous studies have shown that DM1 is caused by the expansion of a cytosi...
متن کاملPREPARATION AND MOLECULAR STRUCTURE OF 2-BENZYLAMINOPYRIDINE COPPER(1) COMPLEX
2-Benzylaminopyridine (HBAP) reacts with NaH in THF and generates the sodium salt (NaBAP). Further reaction of [Cu(TMEDA) ] [CuCl ] with one equivalent of this ligand in THF leads to the formation of a dimeric Cu(1) complex, [Cu (BAP)] . H 0. The molecular structure has been determined by using a single-crystal X-ray diffraction method. The yellow compound crystallizes in the monoclinic s...
متن کاملCirculating Irisin Is Reduced in Male Patients with Type 1 and Type 2 Myotonic Dystrophies
Context Myotonic dystrophies (DM) are dominantly inherited muscle disorders characterized by myotonia, muscle weakness, and wasting. The reasons for sarcopenia in DMs are uncleared and multiple factors are involved. Irisin, a positive hormone regulator of muscle growth and bone, may play a role. Objectives To investigate (1) circulating irisin in a series of DM1 and DM2 male patients compared...
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The concept of the muscular dystrophies as primary degenerative diseases of muscle has been increasingly challenged in recent years (Fenichel et al., 1967; Gardner-Medwin et al., 1967; Munsat et al., 1972; Gallup and Dubowitz, 1973). Considerable support for the neurogenic hypothesis in muscular dystrophy has come from the results obtained using an electrophysiological technique for the estimat...
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ژورنال
عنوان ژورنال: Current Genomics
سال: 2010
ISSN: 1389-2029
DOI: 10.2174/138920210790886844