How Genes are Responsible for Primary Immune Deficiency Disease

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– November 26, 2009Posted in: Featured

Primary Immune Deficiency Disease are a collection of disorders. Here, parts of the body’s protection system, technically called the Immune system, are missing or do not function properly. As a result, the person suffering from this disorder is prone to several infections, viral and bacterial attacks and allergies. 1 in 500 people get this problem. Babies below the age of one are diagnosed with this disorder. The cause is primarily attributed to changes in genes, technically called Mutation. Most of the time, there is no further explanation available for this disease. But Researchers at the National Institutes of Health have now come up with a partial explanation of how Mutation is behind Primary Immune Deficiency Disease.

What is Mutation of Genes: Human body is made up of cells. The cells contain nucleus at their center. It contains instructions which run the various organs of our body. These instructions are available in chunks called chromosomes. They are made up of chemical molecules. One single instruction or part of a chromosome is called a gene. The gene has a basic structure with molecules situated at precise locations. We get this basic structure from our parents at the time of birth. When for several reasons, these molecules get detached from their proper place or go missing, it is technically called mutation. It causes severe changes in our body.

What the Research Involved: The research was conducted by Dr. Helen Su, M.D., Ph.D., and her team at the National Institute of Allergy and Infectious Diseases (NIAID) in September 2009. The technique used by them was called comparative genomic hybridization. In this process, the scientists collected genes from five different groups. Four groups were different types of Primary Immune Deficiency Disease sufferers and the fifth group was of healthy individuals. These genes were inserted in to a computer chip. It helped in comparing the genes of the four diseased groups with the genes of the healthy individuals.

What the Research Discovered: Scientists found that people suffering from this disease have changes in a particular gene. That gene is called DOCK8. Its normal functioning is not known yet. But it is found from the research that some parts of this gene are missing. This changed DOCK8 gene was compared with the same gene in healthy individuals. It was learnt that the missing parts of the gene cause severe damage. Because of these missing parts, the body produces few protection cells to fight against viral infections. Few anti-bodies are produced. Cells responsible to fight against allergy are also produced less.

In this way, the researchers have learnt about the functions of the gene DOCK8 too. It is learnt to be essential in protecting the body against viral infections, allergies and even cancer.

According to Dr. John E. Niederhuber, M.D., Director of the National Cancer Institute (NCI), the way this discovery was made is very normal. It is during the study of genetic changes and their role in unidentified diseases, that scientists gain further insight. Researchers from the National Cancer Institute (NCI) were also actively involved in the study. They wanted to understand whether genes play a role in initiating cancer. Now the scientists will focus their attention on completely understanding the functions of the gene DOCK8. Once this is achieved, there can be possibilities to strengthen the gene DOCK8 to fight against Primary Immune Deficiency Disease.

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