Research

Life Sciences & Biotechnology

Title :

Investigating the role of PTPRM gene in lens thickness, identified from quantitative trait genome-wide association study

Area of research :

Life Sciences & Biotechnology

Focus area :

Genetics

Principal Investigator :

Dr. Moulinath Acharya, National Institute of Biomedical Genomics, Kalyani, West Bengal

Timeline Start Year :

2024

Timeline End Year :

2027

Contact info :

Details

Executive Summary :

Lens thickness (LT) is a significant trait associated with eye diseases like primary angle closure glaucoma (PACG), premature cataract, and myopia. A genome-wide association study found that a novel genic area surrounding the PTPRM gene is associated with increased lens thickness in the Indian population. PTPRM is a protein belonging to the tyrosine phosphatase family and has a similar structure to cell-cell adhesion molecules. It binds with E-cadherin or alpha-catenin or beta-catenin complexes and controls its phosphorylation. PTPRM is tightly regulated by the balance between protein tyrosine kinases (PTKs) and PTPs. PTPRM is expressed in the developing brain and retina. It interacts with the gap junction protein connexin43 (Cx43), which plays a crucial role in lens fiber differentiation and lens structure. Lens connexins play a crucial role in lens homeostasis, and understanding their interactions and influence on lens thickness is essential. The study aims to investigate PTPRM's role in maintaining CX-43 mediated gap junctions in lens epithelium and its modulation upon differentiation.

Total Budget (INR):

50,68,840

Organizations involved