Genetic Variations Predispose COPD Patients To a More Severe Form of the Disease

Genetic Variations Predispose COPD Patients To a More Severe Form of the Disease
Ramcés Falfán-Valencia
Dr. Ramcés Falfán-Valencia

A new study from the National Institute of Respiratory Diseases (INERS) suggests that people of mestizo Mexican decent may have specific genes that make them more prone to Chronic Obstructive Pulmonary Disease (COPD).

Chronic Obstructive Pulmonary Disease (COPD) describes a group of severe lung condition that causes difficulty in breathing. Symptoms include chronic bronchitis, emphysema and asthma. The condition is estimated to afflict 32 million people in the U.S. and is the fourth leading cause of death in the country.

Smoking and exposure to several kinds of smoke — often a result of burning fires for heat in some rural and developing populations — are known to be the major causes of COPD.

The condition is progressive and currently approved and available therapies include the use of oxygen, medications that decrease the pain associated with lung obstruction, and bronchodilators.

In the article, published in the journal Investigación y Desarrollo, the team of researchers conducted a survey in 299 patients with a diagnosis of COPD, based on data from the 2011 Global Inititaite of Chronic Obstructive Lung Disease. The aim was to determine the reason why some COPD patients exhibit severe conditions while others remain in a moderate stage of the disease. Results revealed that in some patients there is a variation in a gene called IL6R, leading to moderate COPD, while in others a gene called ADAM19 leads to severe COPD.

In a recent press release, Ramcés Falfán-Valencia, the principal investigator of the study and a member of the National System of Researchers said, “We found variations in the genome or mutations called SNPs associated with disease severity, located in the genes of the receptor Interleukin (IL6R) involved in the inflammatory process of COPD and in the ADAM19 gene that is responsible for maintaining the [firm] structure of the lung.”

“In the lung we have cells that are responsible for eliminating pathogens in every breath, but in patients who develop COPD it causes a more severe inflammation and a relentless disease develops, with which was initially a defense mechanism,” explained Ramcés Falfán-Valencia in the press release.

Based on the findings, the researchers noted that personalized genomics may be a feasible treatment option for patients with COPD who are genetically predisposed to suffer a progressively severe form of the disease.

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