Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Serum Laboratory Studies, Stool Test, Breath Test

Serum Laboratory Studies, Stool Test, Breath Test

Gastrointestinal (GI) diagnostic studies are pivotal in confirming, ruling out, diagnosing, or staging various diseases, including cancers. Following diagnosis, allocating time for discussions with the patient and providing informational resources is crucial. Diagnostic assessments of the GI tract often occur in outpatient settings like endoscopy suites or GI labs. Preparation for these tests may include dietary restrictions, fasting, liquid bowel preparations, laxatives, enemas, and the...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Sex Differences in the Diagnosis and Treatment of Japanese Patients With Familial Hypercholesterolemia: A Retrospective Cohort Study.

Journal of lipid and atherosclerosis·2026

Same author

APOE-containing HDL: A New Window into the HDL Function and Atherosclerosis Progression.

Journal of atherosclerosis and thrombosis·2025

Same author

Significance of Clinical and Genetic Signatures of Familial Hypercholesterolemia Among Patients With Severe Hypercholesterolemia.

JACC. Advances·2025

Same author

Sustaining the Promise of PCSK9 Inhibitors: Lessons from Real-World Adherence in China.

Journal of atherosclerosis and thrombosis·2025

Same author

Triple Assessments of Atherosclerosis in Patients With Heterozygous Familial Hypercholesterolemia.

JACC. Asia·2025

Same author

Cholesteryl Ester Transfer Protein Deficiency and Hyperalphalipoproteinemia.

Journal of atherosclerosis and thrombosis·2025

Search research articles

Related Experiment Video

Updated: Dec 24, 2025

Author Spotlight: A Bicelle Crystallization Setup for ABC Transporter Membrane Proteins to Advance Drug Development

Author Spotlight: A Bicelle Crystallization Setup for ABC Transporter Membrane Proteins to Advance Drug Development

Published on: August 25, 2023

Serum sitosterol level predicting ABCG5 or ABCG8 genetic mutations.

Nobuko Kojima¹, Hayato Tada¹, Soichiro Usui¹

¹Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.

Clinica Chimica Acta; International Journal of Clinical Chemistry

|April 11, 2020

Summary

Sitosterolemia diagnosis typically uses a serum sitosterol cutoff of 10 μg/ml. This study suggests a higher cutoff of 15 μg/ml for better accuracy in identifying patients with ABCG5/ABCG8 gene mutations.

Keywords:

ABCG5 ABCG8 Familial hypercholesterolemia Sitosterol Sitosterolemia

More Related Videos

Using Multi-fluorinated Bile Acids and In Vivo Magnetic Resonance Imaging to Measure Bile Acid Transport

Using Multi-fluorinated Bile Acids and In Vivo Magnetic Resonance Imaging to Measure Bile Acid Transport

Published on: November 27, 2016

Chemically-blocked Antibody Microarray for Multiplexed High-throughput Profiling of Specific Protein Glycosylation in Complex Samples

Chemically-blocked Antibody Microarray for Multiplexed High-throughput Profiling of Specific Protein Glycosylation in Complex Samples

Published on: May 4, 2012

Related Experiment Videos

Last Updated: Dec 24, 2025

Author Spotlight: A Bicelle Crystallization Setup for ABC Transporter Membrane Proteins to Advance Drug Development

Author Spotlight: A Bicelle Crystallization Setup for ABC Transporter Membrane Proteins to Advance Drug Development

Published on: August 25, 2023

Using Multi-fluorinated Bile Acids and In Vivo Magnetic Resonance Imaging to Measure Bile Acid Transport

Using Multi-fluorinated Bile Acids and In Vivo Magnetic Resonance Imaging to Measure Bile Acid Transport

Published on: November 27, 2016

Chemically-blocked Antibody Microarray for Multiplexed High-throughput Profiling of Specific Protein Glycosylation in Complex Samples

Chemically-blocked Antibody Microarray for Multiplexed High-throughput Profiling of Specific Protein Glycosylation in Complex Samples

Published on: May 4, 2012

Area of Science:

Biochemistry
Genetics
Clinical Diagnostics

Background:

Sitosterolemia is diagnosed when serum sitosterol exceeds 10 μg/ml.
Genetic mutations in ABCG5 or ABCG8 genes are implicated in sitosterolemia.
Accurate diagnostic criteria are crucial for managing this condition.

Purpose of the Study:

To evaluate the diagnostic accuracy of serum sitosterol levels for sitosterolemia.
To investigate the correlation between ABCG5/ABCG8 gene mutations and serum sitosterol concentrations.
To determine an optimal cutoff value for diagnosing sitosterolemia in dyslipidemic individuals.

Main Methods:

Retrospective analysis of 206 Japanese dyslipidemic subjects (2009-2018).
Assessment of serum sitosterol levels and screening for ABCG5/ABCG8 mutations.
Categorization of subjects into groups based on mutation status (none, single, double).

Main Results:

Identified 8 individuals with double mutations (sitosterolemia), 26 with single mutations, and 172 controls.
Serum sitosterol was significantly higher in patients with double mutations (45.2 μg/ml) compared to others.
A cutoff of 10 μg/ml perfectly distinguished double mutation patients from controls, but 6 carriers exceeded this level.
ROC analysis indicated an optimal cutoff value of 14.81 μg/ml for predicting double mutations.

Conclusions:

A serum sitosterol cutoff of 15 μg/ml is proposed for improved diagnostic accuracy.
This higher cutoff value demonstrates a better positive predictive value than the current 10 μg/ml criterion.
The findings support refining diagnostic thresholds for sitosterolemia based on genetic status.