Previous studies show that GALNT2 was among the first novel genes associated with HDL-C and triglycerides, for blood lipid traits. Despite the early implication of the GALNT2 locus, the specific role of this gene in HDL-C levels remained elusive. GWAS has identified many new areas of the genome as novel and potentially important contributors to disease-related traits like lipid levels, however, finding the specific genes in these regions and how they affect these traits has been very challenging. The current study provides one blueprint for how to relate a GWAS-implicated gene to a clinically relevant phenotype across species.
The current study identifies two humans carrying variants in GALNT2 in two independent families that both completely blocked the gene’s enzymatic function. The lab compared the HDL-C levels of the carriers of these variants to mouse, rat, and monkey models of GALNT2 deficiency or inhibition, to show that all the models and the human subjects had low HDL levels compared to models with GALNT2.
The group state that they also sought to understand how GALNT2 maintains HDL-C levels, as the gene encodes enzyme modifying proteins through carbohydrate additions. Therefore, they compared all the proteins in the blood and liver, a tissue critical to regulating HDL levels, in the humans, mice and rats with GALNT2 deficiency to pinpoint any proteins with reduced modifications that may impact HDL levels. Results show that humans, mice, and rats lacking GALNT2 had reduced activity of phospholipid transfer protein (PLTP) in the blood, which suggests that GALNT2 is a conserved regulator of HDL levels through its effects on PLTP function.
Michelle Petersen is the founder of Healthinnovations, having worked in the health and science industry for over 21 years, which includes tenure within the NHS and Oxford University. Healthinnovations is a publication that has reported on, influenced, and researched current and future innovations in health for the past decade.
Michelle has been picked up as an expert writer for Informa publisher’s Clinical Trials community, as well as being listed as a blog source by the world’s leading medical journals, including the acclaimed Nature-Springer journal series.
Healthinnovations is currently indexed by the trusted Altmetric and PlumX metrics systems, respectively, as a blog source for published research globally. Healthinnovations is also featured in the world-renowned BioPortfolio, BioPortfolio.com, the life science, pharmaceutical and healthcare portal.
Most recently the Texas A&M University covered The Top 10 Healthinnovations series on their site with distinguished Professor Stephen Maren calling the inclusion of himself and his team on the list a reflection of “the hard work and dedication of my students and trainees”.
Michelle Petersen’s copy was used in the highly successful marketing campaign for the mega-hit film ‘Jumanji: The Next Level, starring Jack Black, Karen Gilian, Kevin Hart and Dwayne ‘The Rock’ Johnson. Michelle Petersen’s copywriting was part of the film’s coverage by the Republic TV network. Republic TV is the most-watched English language TV channel in India since its inception in 2017.
An avid campaigner in the fight against child sex abuse and trafficking, Michelle is a passionate humanist striving for a better quality of life for all humans by helping to provide traction for new technologies and techniques within healthcare.