[Ataxia telangiectasia]
Nihon Rinsho. Japanese Journal of Clinical Medicine
|August 2, 2000
Summary
Ataxia-telangiectasia (AT) is a genetic disorder caused by mutations in the ATM gene, leading to cerebellar degeneration and increased cancer risk. Research is exploring ATM
Area of Science:
- Genetics and Molecular Biology
- Neuroscience
- Immunology
Background:
- Ataxia-telangiectasia (AT) is an autosomal recessive disorder.
- AT is characterized by cerebellar degeneration, immunodeficiency, cancer predisposition, and radiation sensitivity.
- Mutations in the AT-mutated (ATM) gene cause AT.
Purpose of the Study:
- To summarize recent research developments in ATM functions.
- To explore the relationship between ATM functions and the clinical phenotypes of AT.
Main Methods:
- Literature review of recent research on ATM.
- Analysis of the connection between ATM's molecular functions and AT's clinical manifestations.
Main Results:
- The AT-mutated (ATM) gene encodes a serine-threonine kinase related to phosphatidylinositol 3-kinase (PI3K).
- ATM plays a role in DNA damage recognition and cell cycle control following ionizing radiation.
- Further research into ATM's functions is expected to elucidate other AT disease features, like cerebellar degeneration.
Conclusions:
- ATM kinase is central to DNA damage response and cell cycle regulation.
- Understanding ATM's diverse roles is crucial for explaining the complex clinical spectrum of Ataxia-telangiectasia.
- Continued investigation into ATM functions will advance knowledge of AT pathogenesis.
Related Concept Videos
01:12Visual Agnosia
Visual agnosia is a condition characterized by the inability to recognize visually presented objects despite having normal vision. For instance, a person with visual agnosia can describe the shape and color of an object but cannot identify or name it. This impairment does not affect their visual field, acuity, color vision, brightness discrimination, language, or memory. An example of this condition in a social setting is someone at a dinner party asking for "that silver thing with a round end"...
01:21Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
01:27Diabetic Retinopathy
DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...
01:26Transient Ischemic Attack l: Introduction
A transient ischemic attack (TIA) is a brief episode of neurological dysfunction caused by a temporary, focal reduction in cerebral blood flow. Although symptoms resemble those of an ischemic stroke, the interruption in perfusion is short-lived and does not cause permanent infarction. TIAs are clinically important because they often serve as early warning events for future stroke.Mechanisms of Transient Cerebral IschemiaTransient cerebral ischemia may arise through several mechanisms. One...
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
01:22Dementia l: Introduction
Dementia is an acquired, progressive syndrome characterized by a decline in multiple cognitive domains severe enough to impair daily functioning and reduce independence. Although memory loss is a central feature, the diagnosis requires additional deficits involving language, executive function, visuospatial skills, judgment, calculation, or abstract reasoning. These cognitive impairments reflect underlying neurodegenerative or vascular processes that gradually disrupt neuronal networks...