AUA 2006 - Neurodegenerative Disease Microsatellite Expansio

This is a significant international study by an important investigative group. The authors hypothesize that there may be significant genetic abnormalities that have not been identified in infertile men.

Triplet repeat neurodegenerative diseases may be present in preclinical state as evidenced by repeat DNA expansions.

These preclinical states can be passed on to children. Symptoms may become apparent later in life (3rd - 4th decades). The authors examined fertile and infertile men in Houston and Melbourne for evidence of triplet repeat tracts of ataxin-1 and -2 and Dystrophia Myotonica.

They demonstrated regional differences. Men from both regions had both preclinical and clinical repeat tracts.

The authors suggest that triplet expansions are more prevalent in the infertile population than in the general population and these findings may have greater significance for ICSI conceived children.

Editorial Comment:
The authors highlight an important issue in the management of the infertile couple. What are the long term consequences of IVF/ICSI. Although there does not appear to be any immediate increase risk of major birth defects, the long term safety of ICSI has not been established. This study is provocative.

By Harris Nagler, MD

Poster 1620
Neurodegenerative Disease Microsatellite expansions in infertile men undertaking assisted reproductive treatment
G. Gordon et al

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AUA 2006 - Neurodegenerative Disease Microsatellite Expansio