AI Article Synopsis
- Ataxia telangiectasia (AT) is a rare genetic disorder caused by mutations in the ATM gene, leading to early childhood movement issues and skin changes as children grow.
- Besides neurologic symptoms, AT also affects the immune system, can increase cancer risk, and may impact respiratory and endocrine functions.
- The article discusses the role of the ATM gene, the diverse complications of AT, conditions that can resemble AT, and ongoing research for potential treatments.
Article Abstract
Ataxia telangiectasia (AT) is a rare neurocutaneous syndrome that results from biallelic pathogenic variants in the ataxia telangiectasia mutated (ATM) gene, named for its characteristic cerebellar ataxia in the early toddler years and variable oculocutaneous telangiectasias in the school age years. While its name only hints at neurologic and cutaneous manifestations, this multisystemic disorder also has important immunologic, oncologic, respiratory, and endocrinologic implications. This article will review the function of the ATM gene, the neurologic manifestations of AT, non-neurologic complications, mimickers of AT (including other disorders of defective DNA repair), and the realm of therapeutic research for AT.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.spen.2024.101169 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Mechanistic analysis of Tanshinone IIA's regulation of the ATM/GADD45/ORC signaling pathway to reduce myocardial ischemia-reperfusion injury.
Front Pharmacol
December 2024
Dermatology Department, Shanghai Zhongye Hospital, Shanghai, China.
Background: By far, one of the best treatments for myocardial ischemia is reperfusion therapy. The primary liposoluble component of Danshen, a traditional Chinese herbal remedy, Tanshinone ⅡA, has been shown to have cardiac healing properties. The purpose of this work is to investigate the processes by which Tanshinone ⅡA influences myocardial ischemia-reperfusion injury (MIRI) in the H9C2 cardiac myoblast cell line, as well as the association between Tanshinone ⅡA and MIRI.
View Article and Find Full Text PDFThe cGAS-STING, p38 MAPK, and p53 pathways link genome instability to accelerated cellular senescence in ATM-deficient murine lung fibroblasts.
Proc Natl Acad Sci U S A
January 2025
Department of Human Molecular Genetics and Biochemistry, Faculty of Health & Medical Sciences, Tel Aviv University, Tel Aviv 69978, Israel.
Ataxia-telangiectasia (A-T) is a pleiotropic genome instability syndrome resulting from the loss of the homeostatic protein kinase ATM. The complex phenotype of A-T includes progressive cerebellar degeneration, immunodeficiency, gonadal atrophy, interstitial lung disease, cancer predisposition, endocrine abnormalities, chromosomal instability, radiosensitivity, and segmental premature aging. Cultured skin fibroblasts from A-T patients exhibit premature senescence, highlighting the association between genome instability, cellular senescence, and aging.
View Article and Find Full Text PDFPML Nuclear Bodies and Cellular Senescence: A Comparative Study of Healthy and Premature Aging Syndrome Donors' Cells.
Cells
December 2024
Institute of Cytology of the Russian Academy of Sciences, Tikhoretsky av.4, 194064 St. Petersburg, Russia.
Natural aging and age-related diseases involve the acceleration of replicative aging, or senescence. Multiple proteins are known to participate in these processes, including the promyelocytic leukemia (PML) protein, which serves as a core component of nuclear-membrane-less organelles known as PML nuclear bodies (PML-NBs). In this work, morphological changes in PML-NBs and alterations in PML protein localization at the transition of primary fibroblasts to a replicative senescent state were studied by immunofluorescence.
View Article and Find Full Text PDFAn overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic.
Front Pediatr
December 2024
Paediatrics and Paediatric Respirology, National Heart and Lung Institute, Faculty of Medicine, Imperial College London, London, United Kingdom.
Ataxia-telangiectasia (A-T) is an ultrarare autosomal recessive disorder and occurs in all racial and ethnic backgrounds. Clinically, children and young people with A-T are affected by sinopulmonary infections, neurological deterioration with concomitant bulbar dysfunction, increased sensitivity to ionizing radiation, immunodeficiency, a decline in lung function, chronic liver disease, endocrine abnormalities, cutaneous and deep-organ granulomatosis, and early death. Pulmonary complications become more frequent in the second decade of life and are a leading cause of death in individuals with A-T.
View Article and Find Full Text PDFDC. Regulates Vascular Smooth Muscle Cell Proliferation by Modulating -GlcNAc and MOF Expression.
Prev Nutr Food Sci
December 2024
Aging and Metabolism Research Group, Food Functionality Research, Korea Food Research Institute, Wanju 55365, Korea.
Vascular smooth muscle cells (VSMCs) undergo metabolic pathway transitions, including aerobic glycolysis, fatty acid oxidation, and amino acid metabolism, which are important for their function. Metabolic dysfunction in VSMCs can lead to age-related vascular diseases. -GlcNAcylation, a nutrient-dependent posttranslational modification linked specifically to glucose metabolism, plays an important role in this context.
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!