"In-silico
experiment of the human CFTR sequence to identify common disease causing
mutation and development of small drug therapies for cystic fibrosis." (LINK)
07/2012; In proceeding of: International Conference on Intelligent Systems for Molecular Biology, Volume: 20
ABSTRACT
"Cystic fibrosis, an autosomal recessive genetic disease is associated
with the mutation in the human CFTR protein sequence. So understanding
of the CFTR Protein’s structure and component’s is important for the
development of small drug therapies for cystic fibrosis. To start the
experiment, the amino acid sequence of CFTR was obtained from the
database and thus analyzed using some available software. The major
regions, domains and motifs of the protein were identified. Mutations
were evaluated which can potentially cause cystic fibrosis. Based on the
analysis we can understand the protein components of the CFTR protein
which is important for the development of the small drug therapies. We
have presented the structural components of the CFTR protein which is
our subject of interest. Then as we know it has a large number of
mutations in the gene thus it allows us to evaluate the individual
mutations which are responsible for cystic fibrosis. To address specific
research question, we identified three disease causing mutations in
this gene that are known to be associated with CF. Till now the
conventional way of treating cystic fibrosis is by the use of
physiotherapy, antibiotics and pancreatic supplements. We can also
suggest gene therapy for the CF. We do this by identifying the mutation
responsible for the disease and then transferring a normal copy of the
CTR gene into the lung of the cystic fibrosis patients. This can be
effectively done by using viruses and liposomes. With the development of
better new viruses and liposomes these problems can be solved."
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