Brittany Warren
Bac66@wildcats.unh.edu
University of New Hampshire - Manchester


Abstract
The goal of this project was to use personal genomic databases, resources, and outside research to understand Marfan Syndrome. Marfan Syndrome (MFS) is an autosomal dominant disease affecting the connective tissue of individuals with the disease. The most devastating effect of this disease is the prevalence of aneurysms, skeletal malformations, and ocular deformities (Marfan, 2015). MFS has no known cure, but there have been advancements made to help those affected live longer lives with use of surgery and medications (Bolar, et al., 2012). Genomic testing of families affected have shown new affiliations between mutations and their resulting phenotypes, which helps to create a prophylactic treatment plan before the effects are uncontrollable. A search into the Comparative Toxicology Database has shown multiple connections between the FBN1 gene and certain drugs, which can cause detrimental problems and contraindications. Utilization of the HapMap project revealed new geographical trends regarding certain SNPs of the FBN1 gene. Genomic study of the FBN1 gene is important to the understanding of Marfan Syndrome, and the resulting information will be presented here.


Background

MFS is an autosomal dominant inherited disorder, meaning every person with a mutated copy of the FBN1 gene will inherit the disease. The degree of severity can vary per individual, but the majority have major malformations. Affecting 1 in every 5-10,000 people in the world, this disease is not altered by ethnicity, lifestyle, or other environmental factors. People who have MFS are at high risks for ocular, skeletal, muscular, and cardiovascular complications presenting either very early in neonates, or young adulthood. The type of mutation of the FBN1 gene determines whether MFS will present in neonates or young adults. There have been connections to other genes, such as TGFB, that have been shown to play a significant role in the manifestation of MFS, but so far, any mutation in the FBN1 gene will 100% result in this disease (Marfan, 2015).

Manifestations
Ocular System
  • Ectopia lentis: a dislocation of the lens in the eye, causing severe vision problems
  • Glaucoma: high buildup of fluid in the eye, which causes extreme pressure and vision problems
  • Myopia: near-sightedness
  • Cataracts: clouding of the lens

Cardiovascular System
  • Weakened or stretched aorta
    • Vessel in which blood is pumped through the body
    • Can lead to aneurism
  • Aneurism
    • Bulging of the aortic wall
    • Highly unstable
  • Aortic dissection
    • Inner layer of the aorta tears

Physical Attributes
  • Arachnodactyly: long, narrow fingers and toes
  • Scoliosis: extreme curvature of the spine
  • Pectus excavatum: sunken breastbone
  • Pectus carinatum: protruding breastbone (Marfan, 2015)



Figure 1: Classic MFS physical attributes
marfan.jpg



Image taken from Google



FBN1
Materials and Methods
Results
Broader Impacts
Work Cited