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| http://dx.doi.org/10.1172/JCI149564 | DOI Listing |
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Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study.
Sci Rep
December 2024
Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Amyotrophic lateral sclerosis (ALS) is a devastating, uniformly lethal degenerative disease of motor neurons, presenting with relentlessly progressive muscle atrophy and weakness. More than fifty genes carrying causative or disease-modifying variants have been identified since the 1990s, when the first ALS-associated variant in the gene SOD1 was discovered. The most commonly mutated ALS genes in the European populations include the C9orf72, SOD1, TARDBP and FUS.
View Article and Find Full Text PDFEffects of ALS-associated 5'tiRNA on the transcriptomic and proteomic profile of primary neurons in vitro.
Exp Neurol
December 2024
Department of Physiology and Medical Physics, Royal College of Surgeons in Ireland, 123 St. Stephen's Green, Dublin 2, Ireland; FutureNeuro Research Ireland Centre, Royal College of Surgeons in Ireland, Dublin 2, Ireland. Electronic address:
tRNA-derived stress-induced RNAs (tiRNAs) are a new class of small non-coding RNA that have emerged as important regulators of cellular stress responses. tiRNAs are derived from specific tRNA cleavage by the stress-induced ribonuclease angiogenin (ANG). Loss-of-function mutations in the ANG gene are linked to amyotrophic lateral sclerosis (ALS), and elevated levels of specific tiRNAs were recently identified in ALS patient serum samples.
View Article and Find Full Text PDFGenetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis.
J Neurol
December 2024
Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
Article Synopsis
- Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease, with recent connections made between variants in the SPTLC1 gene and both hereditary neuropathy and juvenile ALS.
- The study analyzed genetic data from patients with familial and sporadic ALS to assess the presence and effects of SPTLC1 variants, using techniques like RT-PCR and ddPCR to evaluate splicing and genetic mosaicism.
- A specific SPTLC1 variant was found in a 21-year-old female patient with juvenile ALS, inherited from her asymptomatic father who exhibited a mosaic form of the variant, highlighting the need for further exploration of the clinical implications of such mosaicism.
Article Synopsis
- Neurons in ALS patients often degenerate due to the buildup of misfolded proteins, with heat shock proteins (HSPs) playing a key role in managing protein health.
- Recent findings link mutations in a gene encoding an HSP co-chaperone to rare ALS forms, highlighting unclear disease mechanisms.
- Research shows that mutations lead to impaired RNA metabolism in motor neurons and increased vulnerability to stress, while boosting HSF1 expression could protect these neurons and could offer a potential ALS treatment approach.
ALS-associated FUS mutation reshapes the RNA and protein composition of stress granules.
Nucleic Acids Res
November 2024
Center for Human Technologies, Istituto Italiano di Tecnologia, Via Enrico Melen 83, 16153, Genoa, Italy.
Stress granules (SG) are part of a cellular protection mechanism where untranslated messenger RNAs and RNA-binding proteins are stored upon conditions of cellular stress. Compositional variations due to qualitative or quantitative protein changes can disrupt their functionality and alter their structure. This is the case of different forms of amyotrophic lateral sclerosis (ALS) where a causative link has been proposed between the cytoplasmic de-localization of mutant proteins, such as FUS (Fused in Sarcoma), and the formation of cytotoxic inclusions.
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