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.
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.
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.
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.
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).
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.
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.
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.
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.
Researchers have discovered a genetic cause of an unusual neurological disorder characterized by developmental delay, known as ataxia.
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.
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.
Scientists have deigned a new method to inhibit a toxicity observed in the sensory neurons of DRG following gene therapy to treat neurological diseases.
According to a study, failures in a quality control system that defends protein-building fidelity in cells can result in motor neuron degeneration.
In May 2019, the U.S. Food and Drug Administration (FDA) approved a gene replacement therapy for the inherited, progressive neuromuscular disease 5q-linked spinal muscular atrophy (SMA).
The brain contains two types of cells. Glial cells receive less attention for their significance in the function and disease of the brain than other neurons.