Lahore University of Management Sciences Lahore University of Management Sciences

Neurosensory Disorder

Dr. Tariq Butt

We are interested in understanding the molecular and cellular basis of  human deafness. Myosin-VI is a key protein whose malfunction has been linked to diverse pathological processes such as deafness, cardiomyopathy and defects in endocytosis of the cystic fibrosis transmembrane conductance regulator (CFTR). A number of mutations in Myosin-VI have been reported in the Pakistani population which disrupts the stereocilia bundle of the hair cells and are associated with human deafness. Exploiting the variety of Myosin-VI variants associated with deafness in our population, we are characterising the potential intracellular defects in Myo-VI function by developing in vivo and in vitro assays. We are developing the ATPase assays as well as in vitro assays for ATP-dependent movement of purified myosin on filaments reconstituted from purified actin. The in vitro motility assays will be characterised with the help of TIRF (Total Internal Reflection Fluorescence) microscopy at single molecule level. We are also in a process of developing an in vivo disease model in collaboration with Dr. Muhammad Tariq to characterise the Myosin-VI variants. Our approaches include understanding the cellular, biochemical, biophysical and structural studies of actin, myosin, and associated proteins from eukaryotic cells