Genetic Mutation Linked to Higher Risk of Asthma

Genetic Mutation Linked to Higher Risk of Asthma

A John Hopkins University School of Medicine team has discovered a genetic mutation that appears to be linked to a higher risk of asthma.The abnormality was discovered in a gene which controls a protein known as Siglec-8. The team has been studying the protein, which is responsible for deciding whether particular immune cells live or die, for almost ten years.

The Siglec-8 protein is found on the outside of several types of immune cells. These immune cells work together to help prevent infection and keep the body healthy. But they can overreact in the case of allergic reactions and asthma attacks, becoming harmful rather than helpful. The speculation is that mutations in the gene might result in extra white blood cells called eosinophils in some people. These white blood cells are involved in asthma and allergies, along with mast cells. The extra eosinophils may make people more susceptible to developing the disease.

The John Hopkins team analyzed DNA samples from nearly 1000 African-American adults and children, half with and half without asthma. Further DNA analyses conducted on samples from Japanese and Brazilian patients reinforced the initial findings.

Asthma is a common chronic respiratory disease that causes inflammation and constriction of the airways. Asthma symptoms include coughing, wheezing, shortness of breath and a feeling of tightness in the chest. It is estimated that 10 percent of the general population has asthma, including 7 million children, and those numbers are growing.

Asthma treatment usually involves two classes of asthma medication, quick-relief or "rescue" medications used to treat asthma attacks, and long-term control asthma medications used to manage chronic symptoms and limit or prevent attacks. Asthma medications are typically provided in a metered-dose asthma inhaler or as a dry powder asthma inhaler.

The hope is that better understanding of the Siglec-8 gene might eventually lead to a diagnostic test or new asthma treatment. "Our results suggest these mutations in the Siglec-8 gene may play a role in asthma," says Dr. Bruce S. Bochner, director of the Division of Allergy and Clinical Immunology at Johns Hopkins. "It's reasonable to assume that efforts to target Siglec-8 might be able to influence this disease and others associated with eosinophils."

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