Spinal Muscular Atrophy News and Research

RSS

Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of death among infants and toddlers. Characterized by selective loss of nerve cells in the spinal cord, the disease leads to increasing muscular weakness and atrophy. Over time, patients afflicted by SMA continue to lose muscle control and strength, leading to progressive inability to walk, stand, sit up and breathe. It is estimated that approximately 1 in 6,000 to 1 in 10,000 infants are born annually worldwide with SMA.

New CRISPR Technology for Precise RNA Delivery in Neurons

Proteins produced by RNA segments can aid in the repair of damaged neurons in human bodies.

22 May 2025

LUC7 Proteins Play Key Role in RNA Splicing Control

RNA splicing is a cellular process that is critical for gene expression. After genes are copied from DNA into messenger RNA, portions of the RNA that don't code for proteins, called introns, are cut out and the coding portions are spliced back together.

21 Feb 2025

Alternative Splicing Shapes Biological Complexity through Gene Expression Modulation

A genetic process known as “alternative splicing” involves cutting out specific gene segments and joining the remaining segments to form messenger RNA (mRNA) during transcription.

4 Sep 2024

CSHL Researchers Reveal New Protein Networks in RNA Splicing Regulation

Bodybuilders and cellular mechanisms agree generating protein is a heavy lift. To complete the task, cells rely on complexes called spliceosomes.

11 Jun 2024

RNA Modification Offers Hope for Treating Neurological Diseases

The research team led by Yongchao C. Ma, Ph.D., at the Stanley Manne Children’s Research Institute at Ann & Robert H. Lurie Children’s Hospital of Chicago, uncovered a fundamental biological mechanism that holds promise for the development of novel treatments for neurological disorders like spinal muscular atrophy (SMA) and autism, as well as various types of cancer.

5 Apr 2024

CSHL Researchers Unravel Why Some Splicing-Based Drugs Tend to Work Better Than Others

Spinal muscular atrophy, or SMA, is the leading genetic cause of infant death. Less than a decade ago, Cold Spring Harbor Laboratory (CSHL) Professor Adrian Krainer showed this brutal disease can be treated by tweaking a process called RNA splicing.

6 Mar 2024

New Cell Model Paves Way for Faster Treatments for Neuromuscular Diseases

Scientists have so far identified around 800 different neuromuscular diseases. These conditions are caused by problems in the way muscle cells, motor neurons and peripheral cells interact.

20 Dec 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

Potential Therapy for Lethal Pediatric Brain Cancer 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.

13 Apr 2023

DNA drugs help restore the normal processing of protein-encoding RNA

A protein named TDP-43 has been lost from its normal location in the nucleus of the cell in virtually all persons having amyotrophic lateral sclerosis (ALS) and in up to half of all cases of frontotemporal dementia and Alzheimer’s disease (AD).

From UC San Diego 20 Mar 2023

Delaying paralysis in ALS by using designer DNA drug

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.

20 Mar 2023

Study unravels a novel function of the gene scissors

Many years earlier, the CRISPR/Cas9 gene scissors have been making a sensation in science and medicine. This new tool of molecular biology consists of its origins in an ancient bacterial immune system.

28 Nov 2022

New study explores how human plastins behave in cells

New study reveals that a family of proteins that help many different types of cells move and retain their form may induce disease when they work too hard and disturb the cellular environment.

23 May 2022

Study identifies new therapy to treat cystic fibrosis

The process of making proteins from genes is similar to that of a factory, where employees must follow a set of instructions that are both effective and precise.

31 Jan 2022

Mutations in GEMIN5 protein can cause rare genetic disorders in children

Researchers have discovered a genetic cause of an unusual neurological disorder characterized by developmental delay, known as ataxia.

From University of Pittsburgh 10 May 2021

First-in-human clinical trial to test safety, efficacy of gene therapy for Alzheimer's disease

Researchers at University of California San Diego School of Medicine have launched a first-in-human Phase I clinical trial to assess the safety and efficacy of a gene therapy to deliver a key protein into the brains of persons with Alzheimer's disease (AD) or Mild Cognitive Impairment (MCI), a condition that often precedes full-blown dementia.

From UC San Diego 19 Feb 2021

Investigational antisense medicine lowers disease burden, reduces myeloma cell abundance in mice

Many patients with multiple myeloma, a type of blood cancer, eventually develop resistance to one treatment after another. That's in part because cancer stem cells drive the disease -- cells that continually self-renew. If a therapy can't completely destroy these malignant stem cells, the cancer is likely to keep coming back.

From UC San Diego 21 Jan 2021