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Androgen receptor gene polymorphisms in amyotrophic lateral sclerosis
O Garofalo1, D A Figlewicz, P N Leigh
1Department of Neurology, Institute of Psychiatry, London, U.K.
Neuromuscular Disorders : NMD
|May 1, 1993
Summary
Amyotrophic lateral sclerosis (ALS) affects more men than women, prompting research into sex-linked factors. This study found that androgen receptor gene CAG repeat polymorphisms do not significantly influence ALS susceptibility.
Area of Science:
- Neuroscience
- Genetics
- Motor Neuron Diseases
Background:
- Amyotrophic lateral sclerosis (ALS) exhibits a higher prevalence in males, suggesting potential sex-linked genetic influences.
- Kennedy's disease, a related motor neuron disorder, involves mutations in the androgen receptor gene's CAG repeat sequence.
- This raises the question of whether similar androgen receptor gene variations contribute to ALS risk.
Purpose of the Study:
- To investigate the hypothesis that CAG repeat polymorphisms in the androgen receptor gene influence susceptibility to sporadic Amyotrophic Lateral Sclerosis (ALS).
Main Methods:
- Analysis of the CAG repeat sequence size in the androgen receptor gene.
- Comparison of allele distributions between a large cohort of sporadic ALS patients and healthy controls.
Main Results:
- The distribution of androgen receptor gene CAG repeat alleles was found to be similar between ALS patients and control groups.
- This indicates no significant difference in the frequency of these polymorphisms in relation to ALS.
Conclusions:
- Polymorphisms in the CAG repeat sequence of the androgen receptor gene play a minimal or no discernible role in the susceptibility to developing Amyotrophic Lateral Sclerosis (ALS).
- Further research into other genetic or environmental factors may be necessary to explain the sex bias in ALS prevalence.