Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Ataxia telangiectasia causes
Introduction
Causes
Causes
- Ataxia-telangiectasia is inherited, which means it is passed down through families. It is an autosomal recessive trait. This means that both parents must provide a defective gene for the child to have symptoms of the disorder.
- The disease results from defects in the ataxia telangiectasia mutated (ATM) gene. The ATM gene is involved in making protein that control cell division and DNA repair. The ATM protein helps cells to identify damaged and broken DNA and activates enzymes which fix the broken parts.[1]. Defects in this gene can lead to abnormal cell death in various places of the body, including the part of the brain that helps coordinate movement.
- Boys and girls are equally affected.
References
References
- ↑ http://www.ghr.nlm.nih.gov/condition/ataxia-telangiectasia#inheritance. Missing or empty
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]