Event Title

Mutations in Fibrillin-1 Protein Cause Hereditary Connective Tissue Disorder

Presenter Information

Randie Alf

Mentor 1

Madhusudan Dey

Location

Union Wisconsin Room

Start Date

27-4-2018 1:00 PM

Description

Mutations in Fibrillin-1 Protein Cause Hereditary Connective Tissue Disorder

Randie Alf and Madhusudan Dey

Department of Biological Sciences, University of Wisconsin-Milwaukee, WI-53211

ABSTRACT:

Fibrillin-1 (FBN1) proteins aggregate to produce microfibrils that provide both rigidity to bone and support tissue as well as stretch to ligaments and vessels. Mutations in the FBN1 affects the formation of microfibril, causing a genetic disorder called Marfan Syndrome. This syndrome affects ocular, skeletal and cardiovascular systems in the body. Researchers have found that ~1,300 different mutations in the FBN1 gene cause Marfan Syndrome. Retrieving the sequence of the FBN1 gene is the starting point for understanding the best way to treat and possibly cure this disease. Here, I analyzed the gene and protein sequences of FBN1 gene protein sequences from several organisms. My analysis will allow for understanding of where mutations can occur and looking at the amino acid composition will show how the protein will present itself. Knowing what the protein looks like will help identify when it is misshapen due to mutation in the gene. Additionally, studying the homologous protein sequences of the gene will show what organisms have the same sequence and expression. These organisms can then be used to study the mutations and can provide accurate answers to understanding Marfan Syndrome.

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Apr 27th, 1:00 PM

Mutations in Fibrillin-1 Protein Cause Hereditary Connective Tissue Disorder

Union Wisconsin Room

Mutations in Fibrillin-1 Protein Cause Hereditary Connective Tissue Disorder

Randie Alf and Madhusudan Dey

Department of Biological Sciences, University of Wisconsin-Milwaukee, WI-53211

ABSTRACT:

Fibrillin-1 (FBN1) proteins aggregate to produce microfibrils that provide both rigidity to bone and support tissue as well as stretch to ligaments and vessels. Mutations in the FBN1 affects the formation of microfibril, causing a genetic disorder called Marfan Syndrome. This syndrome affects ocular, skeletal and cardiovascular systems in the body. Researchers have found that ~1,300 different mutations in the FBN1 gene cause Marfan Syndrome. Retrieving the sequence of the FBN1 gene is the starting point for understanding the best way to treat and possibly cure this disease. Here, I analyzed the gene and protein sequences of FBN1 gene protein sequences from several organisms. My analysis will allow for understanding of where mutations can occur and looking at the amino acid composition will show how the protein will present itself. Knowing what the protein looks like will help identify when it is misshapen due to mutation in the gene. Additionally, studying the homologous protein sequences of the gene will show what organisms have the same sequence and expression. These organisms can then be used to study the mutations and can provide accurate answers to understanding Marfan Syndrome.