Elucidating the mechanistic relationship between a genetic variant of interest and increased masld predisposition in humans

Active Project Grant Awarded Last action

Award ID
F31DK148095
Recipient
Awarding agency
Obligated
$50,114

Award facts

Assistance listing
93.847 Diabetes, Digestive, and Kidney Diseases Extramural Research
Completion date 0% complete
Place of performance
New York, NY 10065, USA

Award details come from USAspending.gov.

Description

As the agency reported it.

Abstract
Metabolic dysfunction-induced steatotic liver disease (masld) is a liver condition characterized by hepatic steatosis as well as the presence of at least one of five cardiometabolic risk factors. Affecting approximately 38% of the global population, the disease's development is influenced by lifestyle factors such as diet and obesity - however, gwas studies have shown associations between certain gene variants and a greater risk for masld development. One of the gene variants that has been strongly implicated in increasing one's predisposition to masld is the E167K variant of TM6SF2. TM6SF2 - transmembrane 6 superfamily member 2 - is an ER- associated transmembrane protein expressed predominantly in the liver, kidney, and small intestine. IT is thought to participate in hepatic lipid metabolism in the human liver, and the missense mutation from glutamate to lysine at residue 167 (E167K) has been associated with increased risk for masld development as well as an increased risk of hepatic fibrosis development in masld patients. While mechanisms have been put forth to explain this association, there is a general lack of consensus on the matter. Our aim is to dissect the precise mechanism by which TM6SF2 E167K increases masld predisposition in humans. Since the effects of this variant are not phenocopied in mice - a common model system - i will be utilizing 3D in vitro models of masld. Defining this mechanism has the potential to support superior prevention and treatment efforts for masld patients.

Quick answers

Who received award F31DK148095?

F31DK148095 was awarded to Weill Medical College Of Cornell University by National Institute of Diabetes and Digestive and Kidney Diseases (National Institutes of Health) on May 1, 2027.

How much is award F31DK148095 worth?

$50,114 has been obligated on F31DK148095.

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