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Diabetes

Absence of hormone-sensitive lipase associated with risk of T2DM

Nature Reviews Endocrinology volume 10, page 445 (2014)Cite this article

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A loss-of-function mutation in the hormone-sensitive lipase (HSL) gene is associated with features of the metabolic syndrome, show the results of a new study.

The researchers sequenced genes of the lipolytic pathway in 12 Amish individuals whose levels of triglycerides were either very high or very low. A frameshift deletion in the LIPE gene, which encodes HSL, was present in one of the participants who had high triglyceride levels. Further investigation in a group of 2,730 Amish individuals showed that carriers of the mutation had higher serum triglyceride levels, hepatic fat content and fasting insulin, and lower levels of HDL cholesterol than noncarriers.

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References

  1. Albert, J. S. et al. Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes. N. Engl. J. Med. 10.1056/NEJMoa1315496

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Authors
  1. Joana Osório
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Osório, J. Absence of hormone-sensitive lipase associated with risk of T2DM. Nat Rev Endocrinol 10, 445 (2014). https://doi.org/10.1038/nrendo.2014.92

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