SEP 26, 2019 10:30 AM PDT

Differential effects of OCRL1 mutations in Lowe Syndrome cellular phenotypes

Presented at: Cell Biology 2019
C.E. Credits: P.A.C.E. CE Florida CE
Speaker
  • Graduate Student in the Aguilar lab at the Department of Biological Sciences, Purdue University
    Biography
      I am Swetha Ramadesikan. I am a graduate student (nearly finished 😊) in the Aguilar lab at the Dept. of Biological Sciences, Purdue University. I am studying a rare developmental disease called Lowe Syndrome. This is an X-linked disease caused by mutations in the gene OCRL1 (encodes a lipid 5' phosphatase) and affected males suffer from kidney, ocular and neurological complications. I am interested in understanding how various mutations in OCRL1 lead to differential patient symptoms and cellular phenotypes. We believe that this will help us understand the relationship between patient genotype and phenotype and provide the foundation for more personalized diagnosis, prognosis and also therapeutic strategies. I am from India and got my Bachelor's degree in Bioengineering from SASTRA University, Tanjore India. I have always been interested in connecting the dots between what we learn from cellular behavior, to what it translates into organ physiology and thereby health and disease and hope to continue to be involved in a similar area of research in the future. In my free time, I like to (try) and catch up on reading, practise music, play table tennis and enjoy cooking!

    Abstract

    Lowe syndrome (LS) is a lethal X-linked genetic disorder caused by caused by mutations in OCRL1 gene, which encodes a lipid phosphatase Ocrl1, important for many cellular processes. Our lab identified that lack of Ocrl1 function results in defects in cell spreading, cell migration and primary cilia assembly. Over 200 OCRL1 mutations have been identified in LS, but their specific impact on cellular processes is unknown. The phosphatase domain is a hotspot for disease-causing mutations harboring over 80 unique missense mutations. Our results indicate that different mutations within this domain have different effects on Ocrl1 distribution and on triggering cellular phenotypes. This is the first study to establish the link between genotype and phenotype in Lowe syndrome.

    Learning Objectives:
    1. Studying the relationship between of genotype and phenotype of Lowe Syndrome patients.
    2. Learning the function of different domains of Ocrl1 in different cellular processes.

     


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