“Cambridge Scientists Discover Rare Genetic Mutations That Protect Against Deadly Tuberculosis”

Cambridge University scientists have found that genetic mutations causing Gaucher disease may actually protect individuals against tuberculosis (TB), the leading infectious killer globally. Gaucher, an autosomal recessive lysosomal disorder, occurs more frequently in Jews than in other populations. According to 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. The disease occurs due to a lack of an enzyme that breaks down lipids, which can accumulate in certain organs such as the liver and spleen. Prof. Lalita Ramakrishnan and her Cambridge team discovered that individuals with Gaucher are less susceptible to TB. Her team made the discovery by studying zebrafish with Gaucher mutations. The findings were published earlier this year in Proceedings of the National Academy of Sciences, and may inform new approaches to treating TB, which still kills 1.5m people each year.