Genetic Splicing Tool Defective in ALS and SMA, Possibly Offering Clues to Treatment

Genetic Splicing Tool Defective in ALS and SMA, Possibly Offering Clues to Treatment

A molecular discovery explaining how motor neuron disease develops draws additional parallels between amyotrophic lateral sclerosis (ALS) and another neurodegenerative disease, spinal muscular atrophy (SMA). The study, titled “Disruption of snRNP biogenesis factors Tgs1 and pICln induces phenotypes that mirror aspects of SMN-Gemins complex perturbation in Drosophila, providing new insights…

Protein Buildup in ALS Brains Linked to Lower Protein Removal Factor

Researchers at Torrey Pines Institute for Molecular Studies, in Florida, discovered that patients with amyotrophic lateral sclerosis (ALS) have lower levels of a factor that controls autophagy, a cell mechanism for protein removal from the brain. The study, “Transcription Factor EB Is Selectively Reduced in the Nuclear Fractions of Alzheimer’s and…

Large ALS Data Analysis Reveals Common Genetic Cause of Disease

Researchers have found that mutations in the NEK1 gene are the most common genetic causes of amyotrophic lateral sclerosis (ALS), accounting for 3 percent of North American and European ALS patients, both sporadic and familial. The study, “NEK1 variants confer susceptibility to amyotrophic lateral sclerosis,” published in…

ALS Patients’ Quality of Life Impacted By Psychological Factors

Researchers at the University Medical Center Utrecht recently studied quality of life among people with amyotrophic lateral sclerosis (ALS) and found that anxiety and depression impact poorer health related quality of life (HRQoL), while higher levels of religiosity and spirituality are associated with better overall (global) quality of life (QoL). The research paper,…

ProMIS Neurosciences Targets Misfolded Protein in ALS Research Effort

ProMIS Neurosciences announced the start of a research program to identify new therapeutic targets on neurotoxic strains of a protein, TDP43, implicated in the development of  amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP43 (TAR DNA-binding protein-43) is present in every cell and plays a key role in the response to oxidative stress, an…

ALS Scientists Say Older Stem Cells Will Offer More Accurate Results as They Seek Treatments

Scientists at Cedars-Sinai Board of Governors Regenerative Medicine Institute who are researching methods for enhancing stem cell models for amyotrophic lateral sclerosis (ALS) have found that “aging” the cells could improve studies for potential disease treatments. The mature cells more closely reproduce ALS pathology seen in patients, they said. The research paper, “…