Protein defects causing Familial Hypertrophic Cardiomyopathy
Summary
This project uses biochemical and molecular biology techniques to study the molecular effects of genetic mutations on heart muscle function in the disease familial hypertrophic cardiomyopathy
Supervisor(s)
Research Location
Program Type
N/A
Synopsis
The commonest form of inherited heart disease is familial hypertrophic cardiomyopathy (FHC). We know that about 30% of all families with this disease have a mutation in a gene expressing the heart protein myosin binding protein-C (MyBP-C). This protein is an important protein in the heart that is responsible for adjusting the contraction of the heart in response to stress (adrenergic stimulation). MyBP-C does this by modifying the interaction between the key contractile proteins actin and myosin within the cardiomyocytes. Mutations that occur in FHC in MyBP-C interfere with this modulatory function, but the structural basis for these abnormalities is very poorly understood. These studies involve the use of DNA coding for MyBP-C to express parts of the MyBP-C protein, to allow us to study the protein, mainly using spectroscopic techniques, especially fluorescence spectroscopy.
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Keywords
Familial hypertrophic cardiomyopathy, Myosin binding protein-C, Heart muscle contraction, Cardiovascular & respiratory diseases, Genetic disorders, Cell biology, Genes in biology & medicine, Heart & circulation
Opportunity ID
The opportunity ID for this research opportunity is: 32
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