Scientists from the University of Cambridge have found that the mutations in the FLCN gene, which increases the collapse of the lung, are more common than being widely believed. They appear in about one of three thousand people. Research Results published Thorax in the magazine.
Researchers analyzed the data of three major genomic bases: Biobank, UK, “100,000 genome” and East London Genes & Health Project. They found that one of the 2710-4190 people in the genome could have a FLCN gene associated with Birta-Hogga-Dube syndrome. This value is almost 100 times higher than previous estimates, when the disease occurs in one of 200 thousand people.
BİRTA-HOGG-DUBE syndrome is a disease that can be manifested by the increase in the risk of kidney and intestinal cancer, as well as cysts in the lungs, benign tumors of hair follicles. One of the frequent symptoms can be spontaneous pneumothorax – a praise of the lung with pain and shortness of breath.
However, scientists emphasize that every pneumothorax case is not related to the FLCN mutant genome. One of the 200 high and thin young people aged 15-25 years of age may usually have spontaneous rupture of the lung that does not require serious intervention. However, if Pneumothorax occurs in a person over 40 years of age, doctors recommend an additional examination of the lungs – you will find the cyst characteristics of the syndrome in MRI.
The study also showed that the risk level for the gene carriers may change. In people with one-Hogg-Dube syndrome diagnosed, the probability of pneumothorax throughout life is 37%and approximately 28%among the carriers in the total population. The risk of kidney cancer is also significantly different: 32% of patients with disease syndrome develops, but only 1% among all carriers of genetic mutation.
Previously, scientists They called The disease that significantly increases the risk of dementia.
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Source: Gazeta

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