CeMCOR

Could there be a genetic link between polycystic ovarian syndrome (PCOS) and the cause of a rare eye disorder called Aniridia?

Dr. Jerilynn Prior, Professor of Endocrinology and scientific head of the Centre for Menstrual Cycle and Ovulation Research (CeMCOR), along with Drs. Millan Patel (genetics), Sheila Pride (gynecology-reproductive endocrinology), and Shirin Kalyan (CeMCOR post-doctoral fellow) as co-investigators, have been awarded the UBC Sharon Stewart Aniridia Grant to probe the possibility that there is more then meets the eye to anovulatory androgen excess (AAE) - also commonly referred to as "polycystic ovary syndrome" (PCOS). This unique interdisciplinary research will be further assisted with the close collaboration of a group of prominent ophthalmologists - Drs. Fredrick Mickelberg, Sueda Akkor, and Roy Cline who will carry out complete eye exams on women with AAE.

Aniridia is an inherited problem in the front part of the eye that is most frequently caused by a mutation in a gene called PAX6. PAX6 is highly expressed in the pancreas and intestine where it regulates the production of a number of hormone-producing cells. People born with severe PAX6 mutations have developmental eye problems such as glaucoma (high pressure inside the eyeball) and vision problems. Interestingly, it was recently discovered that minor alterations in PAX6 gene expression also influence the proper regulation of the hormone, glucagon, which, along with insulin, is responsible for the control of blood glucose and energy metabolism. This leads many people with a PAX6 related problem to develop early onset Type 2 diabetes and insulin resistance (that often presents with having a waist circumference larger than 88 cm or 35 inches).

Anovulatory Androgen Excess (AAE) is a condition that affects about five to ten percent of all women and is characterized by a lack of ovulation (i.e. egg release during the menstrual cycle); sometimes having far apart or absent periods; signs of excess androgens (such as male pattern hair growth and problematic acne); frequently having an increased waist circumference (especially in relation to the hips); and an increased risk of diabetes. AAE often clusters in families, which suggests it is an inherited disorder, however, the genetic cause of this syndrome that links women's reproductive hormones to diabetes and heart disease risks is still unknown. It is currently thought that there are probably a number of affected genes that contribute to AAE.

Women with anovulatory androgen excess also have a tendency to develop insulin resistance that leads to early onset Type 2 diabetes. Dr. Prior and the AAE-Aniridia study co-investigators hope to add a piece to the genetic puzzle of aniridia by enrolling women with AAE to determine whether they have problems with the front part of their eyes and to see if specific variations of PAX6 gene expression are present in women with AAE.

Women who have been either diagnosed with or are suspected of having anovulatory androgen excess (and who are between the ages of 19 to 45) can participate in this unique research. The invitation to enroll in this study can be found here.