Wednesday 10 August 2005
Fragile X gene role in POF underestimated
Source: Human Genetics 2005; 117: 376-82
Evaluating the role of the FMR1 trinucleotide repeat in premature ovarian failure, when the repeat size is within the normal range.
A gene implicated in the etiology of fragile X syndrome may be a stronger contributor to premature ovarian failure (POF) than previously believed, suggest Canadian researchers.
The FMR1 gene when fully mutated has more than 200 CGG repeats and is closely linked with the mental retardation of fragile X syndrome, while, at 55-200 copies, the premutation has been associated with POF. Functional effects on gene expression may still occur, however, for repeat sizes in what has been considered the "normal range," reasons the team.
To investigate, they measured the size of this CGG repeat in 53 women with unexplained POF, 161 control women from the general population, and 21 women who were still fertile at an advanced reproductive age.
The number of FMR1 alleles with between and including 35 and 54 CGG repeats was found to be significantly higher in the POF patient population than in controls and women with proven fertility, at 14.2 percent versus 6.5 percent and 4.8 percent, respectively.
"These results are clinically relevant and suggest that the FMR1 gene plays a more significant role in the incidence of POF than has previously been thought," concludes the team, led by K. Bretherick from the University of British Columbia in Vancouver.
Posted: 9 August 2005
http://www.obgynworld.com/international/news/2005/Week_32/Day_2/Fragile_X_gene_role_.asp
Fragile X gene role in POF underestimated 
