In-silico Molecular Analysis of Mutated Sequences of HFE1, HFE2, TFR2 and SLC40A1 causing Hemochromatosis Disease

Abstract

Hemochromatosis is a disorder in iron metabolism that is characterized by excess iron absorption. There are two forms of hemochromatosis: primary hemochromatosis is caused by a problem with your genes. Secondary or acquired hemochromatosis can be caused by other diseases. The main objective of this study is to analyze structure of different types of proteins involved in hemochromatosis. As this is the most threatening disease all over the world including Pakistan but unfortunately no data is available about it so it will be a great step to analyze the structure of its different proteins by using different online tools that gave different results according to their potential as each tool must show the same results for the same protein. Protein structure prediction is one of the most important goals persuaded by Bioinformatics for evolutionary studies and drug designing. Other objective of this project is to provide the prevalence of hemochromatosis in Faisalabad and structure prediction of its proteins to find the conserved regions. At the end the creation of a database is done that would contain all necessary information about diseases. Hereditary hemochromatosis is mainly caused by a defect in a gene called HFE. There are several types of genetic hemochromatosis. These include: Type I or Classic (HHC); Type II or Juvenile (JHC); Type III or Transferrin Receptor Mutation; and Type IV or Ferroportin Mutation. Most types of hereditary haemochromatosis have autosomal recessive inheritance, while type IV has autosomal dominant inheritance.

Keywords

• Hemochromatosis
• Types
• Analysis