mutations

A mutation in the STMN2 gene that consists of an excessive repeat of two nucleotides, the building blocks of DNA, is not associated with the greater risk of amyotrophic lateral sclerosis (ALS), a new study reported. Its findings contradict previous research suggesting a link between this particular mutation and ALS. “Although the…

Editor’s note: The ALS News Today team is providing in-depth coverage of the 2021 Virtual AAN Annual Meeting, April 17–22. Go here to read the latest stories from the conference. More than one-quarter of amyotrophic lateral sclerosis (ALS) patients — with or without a family history of ALS — have…

When amyotrophic lateral sclerosis (ALS) symptoms emerge during adolescence, mutations in the FUS gene are likely to blame, findings from a case report suggest. Mutations in this gene also are the cause of some adult-onset ALS cases. However, FUS-associated ALS is more aggressive in children in whom these…

Mutations in the annexin A11 gene (ANXA11), seen in familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, disrupt the transport of key RNA molecules inside neurons, recent research shows. The annexin A11 protein is a molecular adaptor required for RNA molecules, essential for neurons’ function, to hitchhike on lysosomes…

More than 50% of the cases of amyotrophic lateral sclerosis (ALS) disease are linked with a genetic cause, and first-degree relatives of an ALS member — especially daughters of ALS mothers — show the highest risk to inherit it, according to an Irish population-based study. The study “Lifetime Risk…

Loss of a protein known as ubiquilin causes defects in degradation centers called lysosomes, promoting the buildup of brain waste in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, a fruit fly study has found. The study, “Ubiquilins regulate autophagic flux through mTOR signalling and lysosomal acidification,” was published in…

People with multiple rare mutations in genes known to cause amyotrophic lateral sclerosis (ALS) are significantly more likely to develop this disease at younger ages, a study in Japanese patients reports. The study, “Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

Mutations in the UBQLN4 gene may contribute to the development of amyotrophic lateral sclerosis (ALS), according to recent research. The study, “A novel ALS-associated variant in UBQLN4 regulates motor axon morphogenesis,” was published in the journal eLife. Over the years, researchers have identified numerous genes linked to ALS, but the list…

Suppressing the expression of a protein called ataxin-2 may prolong survival in patients with amyotrophic lateral sclerosis (ALS), according to a recent mouse study. The study, “Therapeutic Reduction Of Ataxin-2 Extends Lifespan And Reduces Pathology In TDP-43 Mice,” was published in the journal Nature. According to researchers, nearly…