Myotonic Dystrophy News and Research

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Weill Cornell Medicine researcher wins $2.1 million grant to study repetitive DNA and RNA sequences

Dr. Jeannine Gerhardt, an assistant professor of stem cell biology in obstetrics and gynecology and in reproductive medicine at Weill Cornell Medicine, has received a five-year, $2.1 million grant from the National Institute of General Medical Sciences (NIGMS), part of the National Institutes of Health, for the study of repetitive DNA and RNA sequences and the mechanisms by which they cause cell dysfunction and diseases.

30 Jan 2024

Calcium channel blockers reverse muscle weakness in animal model of myotonic dystrophy type 1

New research has identified the specific biological mechanism behind the muscle dysfunction found in myotonic dystrophy type 1 (DM1) and further shows that calcium channel blockers can reverse these symptoms in animal models of the disease.

2 Jan 2024

Next-generation sequencing provides novel insights into the mechanisms underlying autism and myotonic muscular dystrophy

The pathomechanistic connection between autism and myotonic muscular dystrophy type 1.

16 Aug 2023

Alternative splicing in neurodegenerative disease and the promise of RNA-based therapeutic strategies

Alternative splicing, a clever way a cell generates many different variations of messenger RNAs -; single-stranded RNAs involved in protein synthesis -; and proteins from the same stretch of DNA, plays an important role in molecular biology.

21 Jun 2023

Same genetic defects shared by some patients with motor neuron disease and frontotemporal dementia

New research has discovered that some patients with motor neuron disease (MND) and frontotemporal dementia (FTD) carry the same rare genetic defects that cause other neurodegenerative diseases.

9 May 2023

Alternative splicing plays a role in compensating for loss of gene function

Living organisms have a knack for persisting in the face of challenges. For instance, when genes malfunction, organisms may be able to compensate by activating redundant genes with similar functions, called paralogs.

21 Feb 2023

Mouse model reveals link between GABA receptors and sleepiness in people with myotonic dystrophy

People with the inherited disorder myotonic dystrophy (DM) often experience excessive daytime sleepiness and fatigue, as well as altered responses to anesthetics that can put them at risk for complications when hospitalized.

29 Sep 2022

Stanford Medicine study shows SARS-CoV-2 can infect human fat tissue

Is SARS-CoV-2 hiding in your fat cells? A study by Stanford Medicine investigators shows that SARS-CoV-2 can infect human fat tissue.

22 Sep 2022

Regular cycling can improve mobility in patients with myotonic dystrophy

A study led by McMaster University researchers has found that regular cycling can greatly improve mobility in patients with myotonic dystrophy (MD), a genetic disease that causes muscle degeneration.

11 Apr 2022

Molecular autopsy of dried blood spots can identify underlying cause of sudden cardiac death in a young person

The underlying cause of sudden cardiac death (SCD) in a young person is often difficult to identify. A genetic analysis could provide more information in many cases, but blood samples are not collected routinely at the time of death, and DNA extracted from the tissues collected at autopsy is damaged because of the way they are fixed in formalin and paraffin-embedded.

30 Aug 2021

Innovative therapeutic platform for blood-to-brain delivery of antisense oligonucleotide therapy

Antisense oligonucleotide (ASO) therapy has the potential to ameliorate many neurodegenerative diseases at the genetic level to suppress the production of harmful proteins or non-coding RNAs.

12 Aug 2021

UVA researchers discover potential treatment approaches for muscle loss in myotonic dystrophy type 1

University of Virginia School of Medicine researchers have identified new insights and potential treatment approaches for muscle loss in myotonic dystrophy type 1 (DM1), the most common form of muscular dystrophy.

7 Jun 2021

A new 3D model for myotonic dystrophy

Myotonic dystrophy is a hereditary degenerative neuromuscular disease that occurs mainly in adults, affecting about 50,000 people only in Spain.

4 May 2021

Study demonstrates intricate relationship between Prpf19 and Exoc7 in inherited ataxias

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph Disease (MJD), describes the most common form of dominantly inherited ataxia in many populations worldwide, including Hong Kong and mainland China.

1 Mar 2021

Study addresses multiple challenges of the pathogenesis of Huntington's disease

Recent genetic data from patients with Huntington's disease (HD) show that DNA repair is an important factor that determines how early or late the disease occurs in individuals who carry the expanded CAG repeat in the HTT gene that causes HD.

12 Feb 2021

Canadian Neuromuscular Disease Registry increases patient access to research, clinical trials

The Canadian Neuromuscular Disease Registry (CNDR) was launched in 2010 to increase efficient patient access to cutting-edge research and clinical trials, to increase understanding of the natural history and epidemiology of neuromuscular disease across Canada, and to facilitate research collaboration.

3 Feb 2021

Adding exercise to genetic treatment reverses fatigue in mice with common myotonic dystrophy

Adding exercise to a genetic treatment for myotonic dystrophy type 1 (DM1) was more effective at reversing fatigue than administering the treatment alone in a study using a mouse model of the disease.

30 Nov 2020

New strategy shows promises for treating RNA-repeat expansion disorders

A new strategy for treating a variety of diseases known as RNA-repeat expansion disorders, which affect millions of people, has shown promise in proof-of-principle tests conducted by scientists at Scripps Research.

8 Nov 2020

RCas9 gene therapy clears toxic RNA buildup in mouse model of myotonic dystrophy

Myotonic dystrophy type I is the most common type of adult-onset muscular dystrophy. People with the condition inherit repeated DNA segments that lead to the toxic buildup of repetitive RNA, the messenger that carries a gene's recipe to the cell's protein-making machinery.

14 Sep 2020

Scientists gain new insight into the pathological mechanisms behind two neurodegenerative diseases

An international team led by Emory scientists has gained insight into the pathological mechanisms behind two devastating neurodegenerative diseases.

6 May 2020