In an age when geneticists are struggling to find the causes of newly emerged diseases, mystery continues to cloud the genetic roots of asthma.
Over the past two decades, scientists have identified the mode of inheritance and heritability rate of asthma allergies. Now University researcher Malcolm Blumenthal seeks to move a step further and locate the areas of chromosomes that contribute to the disease.
Blumenthal is leading a project that examines 100 families with histories of asthma. The research is a continuation of a genetic study of asthma that has been going on at the University for more than 15 years.
“Basically what we are doing is to categorize the people and then categorize their genes, and put these two together, and see which one matches,” said Blumenthal, a professor of medicine at the University.
Asthma is a common disorder that occurs in 3 to 5 percent of the general population. It is characterized by reversible obstruction of the bronchial airways. Physicians diagnose asthma clinically on the basis of symptoms such as intermittent coughing, wheezing and shortness of breath.
Asthmatic patients can die from respiratory failures associated with complications such as pneumonia and heart failure.
Medical professionals believe asthma results from the interaction of human genes and environmental factors, such as cats, smoke and dust mites.
“We know for sure there is a major genetic component,” said Blumenthal.
“In other words, you don’t get allergies without the proper genes,” he added. “However, even if you have the proper genes, you will not get the disease unless you interact with particular environmental factors.”
A common disorder, asthma seems to have become even more common in recent years, especially in cities. Scientists suspect asthma’s increasing frequency, severity and mortality are caused by growing air pollution and the presence of other environmental factors that could trigger asthma.
By discovering the genetic makeup of asthma, Blumenthal hopes to shed new light on the disease.
“I am sure asthma allergies are probably a combination of diseases that look the same, but probably with different mechanisms,” said Blumenthal.
“If we could identify who are at higher risk (of developing asthma),” added Blumenthal, “we could avoid things that would get them into trouble.”
Blumenthal hopes his study will advance clinical diagnosis and treatment of asthma.
“In the far future of gene therapy,” said Blumenthal, “(we could) try to correct the defective DNA that predisposes someone to have the disease.”