AI Article Synopsis
- Recent research has uncovered mutations in TARDBP and FUS that are linked to familial ALS, boosting our understanding of the disease.
- FUS-positive inclusions were discovered in certain cases of frontotemporal lobar degeneration (FTLD) that lacked TDP-43, leading to further investigation of FUS in FTLD and FTLD-ALS patients.
- A specific mutation, p.Arg521His, was found in a patient whose symptoms began with behavioral issues and progressed to ALS, indicating that FUS mutations may have a broader impact on diseases related to FTLD.
Article Abstract
Rapid advances were made in the knowledge of amyotrophic lateral sclerosis (ALS) with the recent identification of TARDBP and FUS mutations in familial ALS. More recently, FUS-positive inclusions were found in a subset of TDP-43-negative frontotemporal lobar degeneration (FTLD) prompting us to analyze FUS in FTLD and FTLD-ALS patients. The p.Arg521His mutation was identified in a patient who initially had behavioral disorders and rapidly developed ALS. Although the frequency of mutations is low, our study enlarges the phenotypes associated with FUS mutations and shows that FUS could also play a direct pathogenic role in FTLD spectrum of diseases.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Potentially actionable molecular alterations in particular related to poor oncologic outcomes in salivary gland carcinomas.
BMC Cancer
January 2025
Department of Tumor Biology and Genetics, Medical University of Warsaw, Warsaw, Poland.
Aim: The study was designed to evaluate molecular alterations, relevant to the prognosis and personalized therapy of salivary gland cancers (SGCs).
Materials And Methods: DNA was extracted from archival tissue of 40 patients with various SGCs subtypes. A targeted next-generation sequencing (NGS) panel was used for the identification of small-scale mutations, focal and chromosomal arm-level copy number changes.
Regulation of physiological and pathological condensates by molecular chaperones.
FEBS J
January 2025
Department of Biochemistry, Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Biomolecular condensates are dynamic membraneless compartments that regulate a myriad of cellular functions. A particular type of physiological condensate called stress granules (SGs) has gained increasing interest due to its role in the cellular stress response and various diseases. SGs, composed of several hundred RNA-binding proteins, form transiently in response to stress to protect mRNAs from translation and disassemble when the stress subsides.
View Article and Find Full Text PDFBreaking Barriers in Huntington's Disease Therapy: Focused Ultrasound for Targeted Drug Delivery.
Neurochem Res
January 2025
Diagnostic Radiology Department, National Cancer Institute, Misrata, Libya.
Huntington's disease (HD) is a progressive neurodegenerative disease resulting from a mutation in the huntingtin (HTT) gene and characterized by progressive motor dysfunction, cognitive decline, and psychiatric disturbances. Currently, no disease-modifying treatments are available. Recent research has developed therapeutic agents that may have the potential to directly target the disease pathology, such as gene silencing or clearing the mutant protein.
View Article and Find Full Text PDFIn silico analysis of mitochondrial DNA genes: implication for conservation of Tor putitora (Hamilton, 1822).
Sci Rep
January 2025
Department of Animal Sciences, Central University of Himachal Pradesh, 176206, Dharamsala, India.
Tor putitora is an endangered cyprinid fish constrained to cold water and is also considered an indicator of a healthy aquatic ecosystem. The present study aimed to examine the haplotypic diversity, genetic variation and population structure of T. putitora isolates using COI and Cyt b gene sequences submitted in GenBank.
View Article and Find Full Text PDFGenetic 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 PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!