Muscular Dystrophy News and Research

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The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.

Scientists Develop Lab-Grown Muscle Stem Cells for Advanced Regenerative Therapies

Recent findings reveal that induced satellite cells can effectively regenerate muscle tissue, outperforming traditional myoblasts in engraftment and function.

23 Sep 2024

New Gene Therapy Approach Improves Muscle Strength in DMD Mice

Indiana University School of Medicine researchers have made a significant breakthrough in developing a new gene therapy approach that restores full-length dystrophin protein, which could lead to new treatments for people with Duchenne muscular dystrophy (DMD).

29 Jul 2024

Harnessing Enzymes for Making RNA Therapeutics

While the COVID-19 vaccines introduced many people to RNA-based medicines, RNA oligonucleotides have already been on the market for years to treat diseases like Duchenne Muscular Dystrophy and amyloidosis.

15 Jul 2024

One Size Doesn't Fit All: Study Reveals Stark Sex Differences in Mitochondrial Activity

Study comparing the genetic activity of mitochondria, the cell’s power plants, in males and females finds extreme differences, suggesting certain disease therapies must be tailored to each sex.

26 Jun 2024

Epigenomic Analysis Reveals Potential Treatment Avenues for ALS

For most patients, it's unknown exactly what causes amyotrophic lateral sclerosis (ALS), a disease characterized by degeneration of motor neurons that impairs muscle control and eventually leads to death.

3 May 2024

How Scientists are Using iPSCs to Develop New Therapies

In 1998, scientists reported being able to derive cells from human embryos that could develop into almost any cell in the body. In 2007, the field took a huge leap when scientists discovered they could reprogram human adult skin cells to act like these embryonic stem cells.

20 Sep 2023

Gene Therapy Shows Promise for Muscular Dystrophy Patients

Researchers at Cincinnati Children’s Hospital reveal how damage to the cell’s energy factory causes muscle wasting. Closing a pore in the mitochondrial membrane in gene-edited mice prevents disease progression.

28 Aug 2023

Disclosing the Key Role of Mitofusin 2 Cellular Makeup in Interconnecting Organelles Within Cells

Researchers at IRB Barcelona, the University of Barcelona (UB), VIMM, and the University of Padua unveil the key role of Mitofusin 2 cellular makeup in interconnecting organelles within cells.

29 Jun 2023

Review: Role of Alternative Splicing Defects in Major Neurodegenerative Diseases

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

Scarring on the Extracellular Matrix Causes Muscles to Stop Working in Duchenne Muscular Dystrophy

Muscles that ache after a hard workout usually don't hurt for long, thanks to stem cells that rush to the injured site along "collagen highways" within the muscle and repair the damaged tissue.

12 May 2023

Optimized Genome-Editing Method Vastly Reduces Mutations

CRISPR-Cas9 is frequently used to alter the genome by researching and editing disease-related genes. However, this approach is coupled with undesirable side effects including mutations and toxicity.

11 Apr 2023

The relationship between cancer and DMD gene expression discovered

Mutations of the gene encoding dystrophins have long been known to cause the debilitating muscle-wasting disease DMD, which affects one in every 5,000 boys born. People with the condition will usually only live into their 20s or 30s.

28 Feb 2023

Scientists receive $2.5 million NIH grant to define the role of lipid droplets in muscle stem cell function

A team of Purdue University scientists led by Shihuan Kuang has received a $2.5 million grant from the National Institutes of Health to define the role of lipid droplets in muscle stem cell function, a study with implications in both humans and livestock.

24 Feb 2023

Toxic protein likely to be the cause of two rare genetic disorders identified

Scientists at the National Institutes of Health and their co-workers reported that DUX4, a toxic protein produced by the body, might just be the reason for two completely different rare genetic disorders.

21 Feb 2023

New center at UCLA focuses on the microbiome’s role in disease prevention

Among the most promising areas of scientific inquiry is the study of the human microbiome and its effect on health. To fuel more rapid progress in this field, Andrea and Donald Goodman and Renee and Meyer Luskin have made a $20 million gift to establish the UCLA Goodman–Luskin Microbiome Center.

16 Feb 2023

Structure of amyloid fibers formed by the protein hnRNPDL-2 determined

Using high-resolution cryo-electron microscopy (cryo-EM), UAB researchers determined the structure of amyloid fibers formed by the protein hnRNPDL-2, which has been linked to limb-girdle muscular dystrophy type 3 and concluded that the protein’s inability to form amyloid ﬁbers, rather than aggregation, would be the cause of the disease.

6 Feb 2023

New genetic condition that raises vulnerability to opportunistic infections

An international consortium co-led by Vanderbilt University Medical Center immunogeneticist Rubén Martínez-Barricarte, PhD, has discovered a new genetic disorder that causes immunodeficiency and profound susceptibility to opportunistic infections including life-threatening fungal pneumonia.

24 Jan 2023