Muscular Atrophy News and Research

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Novel mechanism leads to motor neuron degeneration in spinal muscular atrophy

The lab of Yongchao C. Ma, PhD, at Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago uncovered a novel mechanism that leads to motor neuron degeneration in spinal muscular atrophy (SMA).

7 Dec 2023

Silencing galectin 1 protein shrinks liver cancer tumors in mice

Researchers at UC Davis Comprehensive Cancer Center have shown that inhibiting a specific protein using gene therapy can shrink hepatocellular carcinoma (HCC) in mice.

30 Nov 2023

New diagnostic workflow improves detection of 5q-spinal muscular atrophy

5q-spinal muscular atrophy (5q-SMA) is one of the more common types of spinal muscular atrophy (SMA) affecting around one in ten thousand individuals worldwide.

15 Nov 2023

Gene therapy's double-edged sword: Breakthrough treatments face manufacturing and efficacy

Research explores the advancements, challenges, and economic implications of gene therapy for various diseases, including inherited blood disorders, malignancies treated with CAR-T cells, and diseases targeted by in vivo AAV vectors. The review highlights the transformative potential of gene therapies while acknowledging the complexities in manufacturing, safety, efficacy, and long-term durability.

12 Nov 2023

New drug molecule restores lost nerve-muscle connections, enhances strength

A small molecule previously shown to enhance strength in injured or old laboratory mice does so by restoring lost connections between nerves and muscle fibers, Stanford Medicine researchers have found.

11 Oct 2023

Musashi-2 protein plays key role in the regulation of mass and metabolic processes in skeletal muscle

Researchers from Tokyo Metropolitan University have shown that the protein Musashi-2 (Msi2) plays a key role in the regulation of mass and metabolic processes in skeletal muscle.

11 Sep 2023

New therapy to mitigate fragile X syndrome may be on the horizon

An antisense therapy developed by Joel D. Richter, PhD, Sneha Shah, PhD, and Jonathan K. Watts, PhD, at UMass Chan Medical School and Elizabeth Berry-Kravis, MD, PhD, at RUSH University Medical Center, restores production of the protein FMRP in cell samples taken from patients with fragile X syndrome.

5 Jul 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

The role of RNA splicing in one of the deadliest forms of pancreatic cancer

In this interview, we spoke to Adrian Krainer, a Professor at Cold Spring Harbor Laboratory, about his latest research into the role of RNA splicing in one of the deadliest forms of pancreatic cancer.

22 May 2023

The Wonder of DNA: Reflections from Dr. Francis Collins on the 20th Anniversary of the Human Genome Project

To highlight how far the field of genetics has come, we spoke with Dr. Francis Collins, the leader of the Human Genome Project about his incredible career in genetics.

25 Apr 2023

New potential therapeutic developed for diffuse intrinsic pontine glioma using ASO technology

Diffuse intrinsic pontine glioma (DIPG) is a lethal pediatric brain cancer that often kills within a year of diagnosis. Surgery is almost impossible because of the tumors' location.

12 Apr 2023

Discovery suggests a new way to treat spinal muscular atrophy

Columbia researchers have discovered how a genetic defect leads to spinal muscular atrophy (SMA), a critical piece of information about the disease that neurologists have been seeking for decades.

23 Mar 2023

Designer DNA drug could be used to delay paralysis in ALS

In virtually all persons with amyotrophic lateral sclerosis (ALS) and in up to half of all cases of Alzheimer's disease (AD) and frontotemporal dementia, a protein called TDP-43 is lost from its normal location in the nucleus of the cell.

17 Mar 2023

How the structural and functional effects of mutations on androgen receptor lead to prostate cancer

The androgen receptor is a key transcriptional factor for the proper sex development —specially in males— and the physiological balance of all the tissues that express this receptor.

17 Mar 2023

Study paves way for developing effective ASO therapies for brain diseases with fewer side effects

A promising therapy for a range of brain diseases involves antisense oligonucleotides (ASOs)-;specialized molecules that can modulate RNA and alter protein production-;directly injected into the cerebrospinal fluid, in the space around the brain and spinal cord.

14 Mar 2023

Rare Diseases Action Plan for England focuses on providing better care and reducing health inequalities

A new Rare Diseases Action Plan for England will be published today (Tuesday 28 February) that will ensure those living with these conditions receive better care and treatment, fairer access to testing and have continued support.

28 Feb 2023

A bitter battle over the ‘orphan drug’ program leaves patients’ pocketbooks at risk

A prescription drug that helps Lore Wilkinson walk and talk despite a rare muscle disease cost her so little for more than a decade that she didn't even use her insurance to pay for it.

22 Feb 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

Nusinersen treatment improves spinal muscular atrophy patients’ walking distance

A positive effect of nusinersen treatment on motor function in ambulant pediatric and adult spinal muscular atrophy (SMA) patients during a 38-month period has been demonstrated by an analysis of data from the SMArtCARE registry.

15 Feb 2023

Protein secreted from skeletal muscle cells and helps to repair and grow muscles

Scientists from Tokyo Metropolitan University have discovered that a protein called platelet-derived growth factor subunit B (PDGF-B) is continuously secreted from skeletal muscle cells and helps to repair muscles by encouraging myoblasts (muscle stem cells) to proliferate.

16 Jan 2023