Event Title

An Analysis of CCN Proteins to Identify SNPs that May Alter Fibrosis Risk

Faculty Sponsor(s)

Heather Doherty

Location

Hartman Union Building Courtroom

Presentation Type

Event

Start Date

4-28-2017 3:00 PM

End Date

4-28-2017 4:00 PM

Abstract

About 45% of deaths in the U.S. can be attributed to fibrosis (scarring). After tissue damage has occurred, fibrosis results from overexpression of extracellular matrix (ECM) proteins while healing. Development of fibrosis involves the six proteins of the CCN family that mediate healing by regulating cellular processes and ECM turnover. Mutations within CCN gene regulatory sequences are known to influence fibrosis risk and we hypothesize that variants within protein-coding regions may play a role, as well. The goal of this study was to identify CCN gene mutations likely to alter protein function. Published mutations in human CCN genes were analyzed using nine programs, and an impact category was assigned based on their combined results. Conservation of domains was compared between genes to identify important functional regions and phylogenetic trees were built to predict the domain functions of less studied CCN genes. We identified high-risk mutations in strongly conserved CCN domains that are most likely to impact protein structure and function. Identification of mutations that alter fibrosis risk will allow for individualized treatment of those at the greatest risk of developing fibrosis.

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Apr 28th, 3:00 PM Apr 28th, 4:00 PM

An Analysis of CCN Proteins to Identify SNPs that May Alter Fibrosis Risk

Hartman Union Building Courtroom

About 45% of deaths in the U.S. can be attributed to fibrosis (scarring). After tissue damage has occurred, fibrosis results from overexpression of extracellular matrix (ECM) proteins while healing. Development of fibrosis involves the six proteins of the CCN family that mediate healing by regulating cellular processes and ECM turnover. Mutations within CCN gene regulatory sequences are known to influence fibrosis risk and we hypothesize that variants within protein-coding regions may play a role, as well. The goal of this study was to identify CCN gene mutations likely to alter protein function. Published mutations in human CCN genes were analyzed using nine programs, and an impact category was assigned based on their combined results. Conservation of domains was compared between genes to identify important functional regions and phylogenetic trees were built to predict the domain functions of less studied CCN genes. We identified high-risk mutations in strongly conserved CCN domains that are most likely to impact protein structure and function. Identification of mutations that alter fibrosis risk will allow for individualized treatment of those at the greatest risk of developing fibrosis.