Preliminary investigation of follistatin gene mutations in women with polycystic ovary syndrome

Strong evidence for a link between the follistatin gene and polycystic ovar y syndrome (PCOS) has recently been found in a well-designed large-scale st udy. Follistatin binds to activin and affects its functions, e.g. stimulati on of FSH synthesis and secretion. Thus, it may play a role in the function al impairment of the FSH-granulosa cell axis in PCOS. in this study, we scr eened 64 Chinese patients with PCOS for mutations in the entire coding regi on (including the region encoding alternative carboxy-terminals) of the fol listatin gene using polymerase chain reaction (PCR)-based single-stranded c onformational polymorphism (SSCP) and DNA sequencing. However, we could not identify a single mutation of either the activating or inhibiting type, us ing these techniques. Therefore, it would appear that PCOS in the local Chi nese population is not caused by mutations in the coding regions of the fol listatin gene.