How Genes are Responsible for Primary Immune Deficiency Disease

Primary Immune Deficiency Disease is 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 infections, viral and bacterial attacks, and allergies. 1 in 500 people have this problem. Babies below the age of one are diagnosed with this disorder. The cause is primarily attributed to a change in the genes, technically called a mutation. For awhile, there was no further explanation available for this disease. But Researchers at the National Institutes of Health have now come up with a partial explanation for the mutation behind Primary Immune Deficiency Disease.

What is a Mutation of Genes?

The human body is made up of cells. The cells contain a nucleus at their center, which contains instructions to 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 conception.  If these molecules get detached from their proper place or go missing, it is technically called a mutation, which causes severe changes in our bodies.

What is 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 had different types of Primary Immune Deficiency Disease, and the fifth group was of healthy individuals. These genes were inserted into a computer chip. It helped in comparing the genes of the four diseased groups with the genes of the healthy individuals.

What Did the Research Discover?

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 was found from the research that some parts of this gene were missing. This changed DOCK8 gene was compared with the same gene in healthy individuals. It was discovered that the missing parts of the gene caused severe damage. Because of these missing parts, the body produced fewer protection cells to fight against viral infections. Few antibodies were produced. Cells responsible for fighting against allergies were also produced less.

In this way, the researchers have learned the functions of the gene DOCK8. It is 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 roles 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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