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Reduced fecundity in male ALS gene-carriers
W G Johnson1, P R Lucek, S Chatkupt
1Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, New Brunswick, USA.
American Journal of Medical Genetics
|November 6, 1995
Summary
Genetic analysis of amyotrophic lateral sclerosis (ALS) families revealed reduced male fertility in gene carriers. This suggests a potential pleiotropic effect of ALS genes on male fertility, possibly linked to oxidative stress or androgen receptors.
Area of Science:
- Genetics
- Neurodegenerative Diseases
- Reproductive Biology
Background:
- Understanding genetic factors in multicase families is crucial for neurodegenerative diseases like amyotrophic lateral sclerosis (ALS) and Parkinson disease (PD).
- Previous studies have established methods for identifying obligate gene carriers within these families.
Purpose of the Study:
- To investigate potential genetic links between gene carriage and reproductive fitness in families with ALS and PD.
- To explore whether identified gene carriers exhibit differences in fertility compared to the general population or carriers of other disease genes.
Main Methods:
- Parallel analysis of 89 amyotrophic lateral sclerosis (ALS) and 214 Parkinson disease (PD) kindreds.
- Identification of obligate gene carriers using established genetic tracking methods.
- Comparative analysis of the number of children per gene-carrier male versus gene-carrier female.
Main Results:
- A statistically significant reduction in the number of children per male gene carrier (2.42) compared to female gene carriers (3.25) was observed in ALS families (P < .0003).
- No significant difference in fecundity was found between male and female gene carriers for other diseases studied.
- Evidence suggests a link between reactive oxygen species and reduced male fertility, with a potential role for nonfunctional androgen receptors.
Conclusions:
- Reduced male fecundity in ALS gene carriers suggests a possible pleiotropic effect of ALS-associated genes on male fertility, manifesting decades before neurological symptoms.
- The findings highlight the potential impact of genetic predispositions on reproductive health in neurodegenerative disease families.
- Oxidative stress and androgen receptor function are proposed as potential mechanisms underlying the observed reduced male fertility in ALS gene carriers.