HGG Adv
Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA; Department of Neurology, University of Michigan, Ann Arbor, MI, USA. Electronic address:
Published: July 2024
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes that complete the first step of protein translation: ligation of amino acids to cognate tRNAs. Genes encoding ARSs have been implicated in myriad dominant and recessive phenotypes, the latter often affecting multiple tissues but with frequent involvement of the central and peripheral nervous systems, liver, and lungs. Threonyl-tRNA synthetase (TARS1) encodes the enzyme that ligates threonine to tRNA in the cytoplasm. To date, TARS1 variants have been implicated in a recessive brittle hair phenotype. To better understand TARS1-related recessive phenotypes, we engineered three TARS1 missense variants at conserved residues and studied these variants in Saccharomyces cerevisiae and Caenorhabditis elegans models. This revealed two loss-of-function variants, including one hypomorphic allele (R433H). We next used R433H to study the effects of partial loss of TARS1 function in a compound heterozygous mouse model (R432H/null). This model presents with phenotypes reminiscent of patients with TARS1 variants and with distinct lung and skin defects. This study expands the potential clinical heterogeneity of TARS1-related recessive disease, which should guide future clinical and genetic evaluations of patient populations.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11284558 | PMC |
http://dx.doi.org/10.1016/j.xhgg.2024.100324 | DOI Listing |
Am J Cancer Res
December 2024
School of Basic Medical Sciences, Jiamusi University No. 258, Xuefu Street, Xiangyang District, Jiamusi 154007, Heilongjiang, China.
Breast cancer is the most common malignant tumour in women, with more than 685,000 women dying of breast cancer each year. The heterogeneity of breast cancer complicates both treatment and diagnosis. Traditional methods based on histopathology and hormone receptor status are now no longer sufficient.
View Article and Find Full Text PDFBackground: Atrial fibrillation (AF) has a significant impact on health and quality of life. The relationship of AF burden and temporal patterns of AF on patient symptoms, outcomes, and healthcare utilization is unknown. Insertable cardiac monitors (ICMs) are a strategic and as yet untapped, tool to investigate these relationships.
View Article and Find Full Text PDFFood Sci Nutr
January 2025
Nutrition Research Center, School of Nutrition and Food Sciences Shiraz University of Medical Sciences Shiraz Iran.
Curcumin, as an antioxidant agent, has been proposed as a potential treatment for nonalcoholic fatty liver disease (NAFLD). The aim of the current systematic review and meta-analysis was to summarize earlier findings regarding the effect of curcumin supplementation on liver enzymes and ALP in NAFLD patients. All studies published up to November 18, 2022, were searched through the PubMed, SCOPUS, and Web of Science databases to collect all randomized clinical trials (RCTs) on NAFLD patients in which curcumin was used as a treatment.
View Article and Find Full Text PDFCureus
December 2024
Family Health Unit New Directions, Unidade Local de Saúde do Alto Ave, Vizela, PRT.
Lung cancer is highly prevalent worldwide and is the leading cause of cancer-related death in Portugal. There is increasing evidence that low-dose computed tomography (LDCT) screening reduces mortality; however, few countries have implemented screening strategies. This review aims to gather the best evidence to assess the relevance of implementing lung cancer screening.
View Article and Find Full Text PDFCureus
December 2024
Internal Medicine, National Medical Center November 20, Mexico City, MEX.
Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes (POEMS) syndrome is a rare paraneoplastic disorder caused by plasma cell proliferation and overproduction of cytokines, particularly vascular endothelial growth factor (VEGF). This complex syndrome affects multiple organ systems and presents with a broad range of clinical and laboratory manifestations, which can complicate both diagnosis and management. Not all components of the acronym are observed in every patient, highlighting the clinical heterogeneity of the condition.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!
© LitMetric 2025. All rights reserved.