myotonic dystrophy Archives - Baylor College of Medicine Blog Network

Focused on the Heart — Novel mouse model of myotonic dystrophy displays reversible cardiac disease features of the condition

April 27, 2021April 27, 2021 alternative splicing, arrhythmias, cardiac function, DM1, DMPK gene, mouse model, myotonic dystrophy, Research

This model of DM1 allows researchers to both focus on cardiac mechanisms of the disease and to expand therapeutics to target the heart.

From The Labs

Nuclear, not cytoplasmic CELF1, has a stronger role in muscle wasting

December 29, 2020December 29, 2020 alternative splicing, CELF1 and MBNL proteins, DM1, DMPK gene, muscle wasting, myotonic dystrophy, Research

This work is the first to show that the response of muscle to CELF1 overexpression depends on the cellular localization of the protein.

From The Labs

There is more going on in DM1 than just alternative splicing

June 26, 2018June 26, 2018 alternative splicing, AMPK-alpha, DM1, DMPK gene, myotonic dystrophy, PDGFR-beta, Research

Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy that affects multiple organ systems. People with this condition develop progressive muscle wasting

From The Labs

Image of the Month: What causes myotonic dystrophy, type1

September 5, 2017 alternative splicing, CELF1 and MBNL proteins, CTG repeat, CUGexp, DM1, DMPK gene, MEF2 transcription factor, muscular dystrophy, myotonic dystrophy, RNA splicing

Myotonic dystrophy, type 1 (DM1) is the second most common cause of muscular dystrophy and numerous other muscle disorders that affect tens of thousands of

From The Labs

How do muscles grow up? Check alternative splicing

January 30, 2017 alternative splicing, Genetics, heart muscle, muscular disorders, muscular dystrophy, myotonic dystrophy, skeletal muscle

Growing up is a complex affair, even for muscles. In the mouse, for instance, newborn muscles grow into adult muscles within the first three weeks