Michael Walter

Biography

My laboratory has focused in recent years upon investigating the function in the human eye of two transcription factors, PITX2 and FOXC1. Both PITX2 and FOXC1 function to regulate the express of other genes during development, but also continue to have important roles in normal adult eye function. Mutations of either PITX2 or FOXC1 result in human Axenfeld-Rieger (AR) malformations. Patients with AR malformations have eye defects and may also present with dental, jaw, and umbilical anomalies. About 50% of AR patients develop glaucoma, a progressive blindness. Research from the Walter laboratory has demonstrated that gene mutations found in AR patients result in either too little or too much PITX2 or FOXC1 transcriptional activity. We are also combining computer-based modeling with detailed cell biology and biochemistry to yield models of PITX2 and FOXC1 with predictive value. Efforts are underway to identify the genes that are regulated by either PITX2 or FOXC1 in the eye in order to determine the gene pathways that leads to glaucoma in AR patients. As well, we are also isolating other proteins that interact with PITX2 or FOXC1 to better understand how these two transcription factors normally function. It is our hope that better understanding of the function of PITX2 and FOXC1 together with knowledge of the genes regulated by these two transcription factors will lead to improved glaucoma detection and treatments.

Research Interest

eye development and glaucoma