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Related Experiment Video

Updated: Apr 26, 2026

LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring

LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring

Published on: November 17, 2018

Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.

Sigrid W Fouchier¹, Geesje M Dallinga-Thie², Joost C M Meijers²

¹From the Department of Experimental Vascular Medicine (S.W.F., J.C.M.M., J.C.D.), Department of Vascular Medicine (S.W.F., G.M.D.-T., J.J.P.K., G.K.H.), and Department of Medical Biochemistry (S.W.F., N.Z.), Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; and Department of Plasma Proteins, Sanquin Research, Amsterdam, The Netherlands (J.C.M.M.). s.w.fouchier@amc.uva.nl.

Circulation Research

|July 19, 2014

Summary

Researchers identified a new genetic cause for autosomal-dominant hypercholesterolemia (ADH), a condition leading to high cholesterol and heart disease risk. This discovery points to variants in the STAP1 gene as a novel locus for ADH.

Keywords:

STAP1 gene, human hypercholesterolemia, autosomal dominant physical chromosome mapping

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Area of Science:

Genetics
Molecular Biology
Cardiovascular Disease Research

Background:

Autosomal-dominant hypercholesterolemia (ADH) is a genetic disorder characterized by high LDL cholesterol and increased coronary vascular disease risk.
Mutations in LDLR, APOB, or PCSK9 typically cause ADH, but some patients present with familial hypercholesterolemia 4 (FH4) without these known mutations.

Observation:

A genome-wide linkage analysis and exome sequencing were performed on a FH4 family.
The study identified a novel variant, p.Glu97Asp, in the STAP1 gene associated with FH4.

Findings:

Four STAP1 variants, including p.Glu97Asp, p.Leu69Ser, p.Ile71Thr, and p.Asp207Asn, were identified in FH4 patients.
Individuals with STAP1 variants showed significantly elevated plasma total cholesterol and LDL cholesterol levels compared to unaffected relatives.

Implications:

This research maps a new ADH locus to chromosome 4p13.
The findings implicate STAP1 as a novel gene associated with autosomal-dominant hypercholesterolemia, expanding the genetic understanding of the condition.