Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Cholesterol: Significance and Regulation01:29

Cholesterol: Significance and Regulation

1.9K
Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
1.9K
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

801
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
801
Genetic Lingo01:11

Genetic Lingo

84.2K
Overview
84.2K
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

117
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
117
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

53
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
53
Lipid Catabolism01:25

Lipid Catabolism

1.4K
Triglycerides serve as crucial long-term energy storage molecules in microorganisms, providing a dense source of metabolic energy. Their breakdown is mediated by lipases, which hydrolyze triglycerides into glycerol and free fatty acids. Each of these components follows distinct metabolic pathways, ultimately contributing to ATP synthesis and cellular energy homeostasis.Glycerol MetabolismGlycerol, released from triglyceride hydrolysis, is phosphorylated by glycerol kinase to form...
1.4K

You might also read

Related Articles

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

Sort by
Same author

SACI-IO HR+: A randomized phase II trial of sacituzumab govitecan with or without pembrolizumab in patients with metastatic hormone receptor-positive/HER2-negative breast cancer.

Annals of oncology : official journal of the European Society for Medical Oncology·2026
Same author

Stool Xpert<sup>®</sup> MTB/RIF Ultra for TB diagnosis in children: experience from a national scale-up programme.

IJTLD open·2024
Same author

Oxygen saturation and work of breathing indices in preterm infants with bronchopulmonary dysplasia compared to healthy preterm infants at discharge.

Journal of neonatal-perinatal medicine·2024
Same author

The role of the nucleus pulposus in intervertebral disc recovery: Towards improved specifications for nucleus replacement devices.

Journal of biomechanics·2024
Same author

The influence of geometry on intervertebral disc stiffness.

Journal of biomechanics·2024
Same author

Increasing TB/HIV Case Notification through an Active Case-Finding Approach among Rural and Mining Communities in Northwest Tanzania.

Journal of tropical medicine·2022

Related Experiment Video

Updated: Apr 24, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
10:56

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

7.5K

Homozygous familial hypercholesterolemia.

M K Alicezah1, R Razali, T Rahman

  • 1UiTM, Faculty of Medicine, Centre for Pathology Diagnostic and Research Laboratories, Malaysia. alicezah_80@yahoo.com.

The Malaysian Journal of Pathology
|September 8, 2014
PubMed
Summary

This case study highlights a rare instance of homozygous familial hypercholesterolemia (HoFH) in a young woman, identified through incidental findings. Early diagnosis and genetic screening are crucial for managing this severe genetic lipid disorder and preventing coronary heart disease.

More Related Videos

Author Spotlight: Exploring the Relationship Between Lipotoxicity and HFpEF
03:42

Author Spotlight: Exploring the Relationship Between Lipotoxicity and HFpEF

Published on: March 29, 2024

2.3K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.3K

Related Experiment Videos

Last Updated: Apr 24, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
10:56

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

7.5K
Author Spotlight: Exploring the Relationship Between Lipotoxicity and HFpEF
03:42

Author Spotlight: Exploring the Relationship Between Lipotoxicity and HFpEF

Published on: March 29, 2024

2.3K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.3K

Area of Science:

  • Genetics
  • Cardiology
  • Metabolic Disorders

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels.
  • Homozygous familial hypercholesterolemia (HoFH) is a rare and severe form of FH.
  • Early detection and intervention are critical to prevent premature cardiovascular disease.

Observation:

  • A 22-year-old Malay woman with no prior cardiovascular history presented with xanthelasma and severe hypercholesterolemia (TC 15.3 mmol/L, LDL-C 13.9 mmol/L).
  • She met the Simon Broome diagnostic criteria for FH.
  • A family history revealed premature coronary heart disease (CHD) and consanguineous parental marriage.

Findings:

  • Genetic analysis identified a homozygous C255S mutation in Exon 5 of the LDLR gene.
  • No mutations were found in the APOB gene.
  • The patient was diagnosed with HoFH.

Implications:

  • This case underscores the importance of diagnostic criteria and genetic studies in identifying FH.
  • Early detection through cascade screening can lead to timely treatment interventions.
  • Prompt management of HoFH is essential to mitigate the risk of CHD and its complications.