(Jewish Group) Study: Gaucher disease, common among Ashkenazi Jews, protects against tuberculosis
Scientists at Cambridge University in England have discovered that the rare genetic mutations that cause Gaucher disease protect against tuberculosis (TB), the leading infectious killer internationally (with the exception of the last few years during the COVID pandemic).
Gaucher, an autosomal recessive lysosomal disorder, is far more common in Jews than in the rest of the global population. According to a study published by the National Institutes of Health, it affects 1 in 500-1000 individuals of Ashkenazi Jewish heritage, as opposed to 1 in 50,000- 100,000 people in the general population.
People with Gaucher are missing an enzyme that breaks down lipids. These fatty substances start to build up in certain organs such as the spleen and liver. There is no cure for the disease, but it generally does not shorten average lifespans and its symptoms can be managed.
The findings that a person with Gaucher is less susceptible to tuberculosis were made by Prof. Lalita Ramakrishnan and her group at Cambridge and published earlier this year in the peer-reviewed Proceedings of the National Academy of Sciences of the United States of America (PNAS).
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