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Category Archives: Lung Disease and Antitrypsin Deficiency

Antitrypsin Deficiency and Lung Disease

July 26, 2009

 

In 2008 it was reported that the late pop icon Michael Jackson pictured below may have been suffering from the lung disorder ‘Antitrypsin Deficiency’. The reporter stated that this would explain Jackson’s low voice tone and deteriorating health problems such as difficulty breathing.

 

MJ in wheelchair

What is Antitrypsin Deficiency?

Antitrypsin Deficiency – is a genetic defect is caused by mutations in the serpina 1 gene on chromosome 14. in the production of a protective protein known as ‘alpha-1 antitrypsin, The protein is produced in the liver and secreted in the bloodstream, and is its effects are sometimes associated with liver disease and pulmonary emphysema.

 

alpha1

 

The protein primarily protects the lungs and inhibits the enzyme -‘neutrophil elastase‘, which the human body produces to break down bacterial cell walls, However, alpha-1 also has the ability to break down and destroy elastin, – a support protein which is detrimental to healthy functioning of the lung, Thus resulting in the development of emphysema. Some individuals with a genetic disposition for the disease go through life and never develop emphysema, whereas others may develop early-onset basal emphysema around age 40-50. Predominantly – the disease shows up in individuals with a history of smoking.