Abstract
Myotonic dystrophy type 1 (DM1) is a complex neuromuscular disease caused by an unstable cytosine thymine guanine (CTG) repeat expansion in the DMPK gene. This disease is characterized by high clinical and genetic variability, leading to some difficulties in the diagnosis and prognosis of DM1. Better understanding the origin of this variability is important for developing new challenging therapies and, in particular, for progressing on the path of personalized treatments. Here, we reviewed CTG triplet repeat instability and its modifiers as an important source of phenotypic variability in patients with DM1.
Highlights
Myotonic dystrophy type 1 (DM1) is a complex disease characterized by multisystemic and variable symptoms [1]
Along with the development of innovative molecular tools to block the disastrous consequences of expanded cytosine thymine guanine (CTG) repeats, the broad clinical spectrum associated with variability in onset and severity of symptoms represents a challenge for patient stratification in order to design future trials
Anticipation is evident among DM1 families and has found its molecular basis with the identification of the dynamic CTG repeat expansion [4]
Summary
Myotonic dystrophy type 1 (DM1) is a complex disease characterized by multisystemic and variable symptoms [1]. Tremendous progress has been made in recent decades in understanding pathophysiological mechanisms due to expanded CTG repeats, paving the way for new therapeutic developments concomitant with the development of new and powerful therapeutic tools [2]. Preclinical assays for DM1 are underway, exploring all possible approaches, and clinical assays have started or are in the starting blocks [3]. Along with the development of innovative molecular tools to block the disastrous consequences of expanded CTG repeats, the broad clinical spectrum associated with variability in onset and severity of symptoms represents a challenge for patient stratification in order to design future trials
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