Defect in intestinal cholesterol absorption as cause of primary hypercholesterolemia

• Grant number: 21/04366-6
• Support Opportunities: Regular Research Grants
• Start date: November 01, 2021
• End date: October 31, 2024
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Eder Carlos Rocha Quintão
• Grantee: Eder Carlos Rocha Quintão
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated researchers: Edna Regina Nakandakare ; Marcelo Chiara Bertolami

Abstract

It is known in healthy that the ingestion of equal amounts of cholesterol results in a variable response in the concentration of cholesterol in plasma lipoproteins, attributed to individual differences in the ability to absorb food cholesterol and block its synthesis. These variations depend on unknown genetic factors and seem frequent and determinant in cases of familial genetic hypercholesterolemia, therefore, not attributed to the classic receptor defects that characterize these genetics. In the ethical impossibility of identifying cases of hyperresponsiveness to dietary cholesterol promoted by its ingestion, we propose to recognize them blocking intestinal cholesterol absorption with the drug Ezetimibe that interferes with the intestinal cholesterol absorption receptor (NPC1L1). The practical usefulness of this knowledge is the possibility of reducing hypercholesterolemia, intervening mainly on the intestinal cholesterol (AU)