Mutations in Fibrillin-1 Protein Cause Hereditary Connective Tissue Disorder
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.
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.
