(ORDO NEWS) — Scientists at the University of Cambridge have found that the mutation, which occurs in one in 15 Ashkenazi Jews, makes them susceptible to Gaucher disease but protects against tuberculosis.
Tuberculosis is a bacterial disease that usually affects the lungs. In 2021, more than 10 million people around the world fell ill with TB and more than 1.5 million died because of it.
However, 95% of people infected with the TB-causing bacteria do not get sick: their immune system destroys the pathogen. Scientists have discovered one of the mechanisms that protect people from tuberculosis.
The authors of the new study previously found that zebrafish with genetic mutations that change the structure of certain proteins become more resistant to tuberculosis.
These proteins are responsible for breaking down fat and protein waste. Their improper functioning can lead to the accumulation of waste in the cell, which disrupts its functions.
For example, macrophages (immune cells) become slower and less able to fight infections. This condition in humans is called Gaucher’s disease.
Scientists have found that a special substance that accumulates in macrophages in Gaucher’s disease protected the fish from tuberculosis.
It acts as a solvent and can kill TB bacteria in minutes by destroying their cell walls.
Gaucher disease is a rare disease that is common among Ashkenazi Jews, affecting about one in 800 babies.
In most cases, the disease can be relatively mild, with symptoms including enlargement of the spleen and liver, and anemia. The discovery of scientists can form the basis of new methods of treating tuberculosis.
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