A Biophysics Undergraduate Research Story from the University for the Deaf and Hard of Hearing

Abstract

Rett Syndrome (RTT) is a rare monogenic progressive neurodevelopmental disorder occurring in about 1 in 10,000 live female births. RTT is usually diagnosed within the first two years of life and manifested by loss of hand skills, impaired mobility and speech, and development of stereotypical hand movements. RTT is caused by mutations in methyl CpG-binding protein 2 (MeCP2). Several years ago, we studied the most common missense mutations in MBD domain of MeCP2 both in silico and in vitro to reveal their effect on protein structure, stability and binding to DNA.