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

Atherosclerosis II: Clinical Manifestations and Diagnostic Tests01:27

Atherosclerosis II: Clinical Manifestations and Diagnostic Tests

590
Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
590
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

24
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
24
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

18
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
18
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

730
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
730
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

472
Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
472
Coronary Artery Disease III: Clinical Manifestations01:30

Coronary Artery Disease III: Clinical Manifestations

437
Coronary Artery Disease (CAD) is a primary health risk worldwide, leading to significant morbidity and mortality. The condition arises from the buildup of atherosclerotic plaques within the coronary arteries, resulting in diminished blood supply to the heart muscle.The clinical manifestations of CAD vary widely, from asymptomatic stages to severe, life-threatening conditions. Understanding these manifestations is crucial for early diagnosis and effective management.Angina Pectoris: The Warning...
437

You might also read

Related Articles

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

Sort by
Same author

A large-scale multi-ancestry mitochondrial variant association analysis for cardiometabolic traits.

Nature communications·2026
Same author

Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans.

American journal of human genetics·2026
Same author

Health care utilization in veterans with Alzheimer disease.

The American journal of managed care·2026
Same author

Identification and characterization of intracerebral hemorrhage events in elderly veterans with alzheimer's disease in the veterans affairs healthcare system.

Scientific reports·2026
Same author

Using natural language processing to extract carotid stenosis severity from clinical notes to create a nationwide veteran cohort.

JVS-vascular insights·2026
Same author

Germline polygenic score for prostate cancer aggressiveness.

medRxiv : the preprint server for health sciences·2026

Related Experiment Video

Updated: Feb 20, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

8.1K

Systemic Manifestations and Mortality Risk in Transthyretin V142I Variant Carriers: A Million Veteran Program

Konstantinos Sideris1, Tyler J Nelson2, Lina Brinker1

  • 1Department of Internal Medicine, George E. Wahlen Department of Veterans Affairs Medical Center, Salt Lake City, Utah, USA; Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA.

JACC. Cardiooncology
|February 18, 2026
PubMed
Summary

The TTR V142I variant significantly increases the risk of heart failure, cardiomyopathy, and other conditions like atrial fibrillation and neuropathy in individuals of African ancestry. Early diagnosis is crucial for managing this genetic predisposition to amyloidosis.

Keywords:
V142Iamyloidosisatrial fibrillationcardiomyopathycarpal tunnel syndromegeneticsneuropathyspinal stenosisvariant transthyretin amyloidosis

More Related Videos

Demonstration of the Sequence Alignment to Predict Across Species Susceptibility Tool for Rapid Assessment of Protein Conservation
16:02

Demonstration of the Sequence Alignment to Predict Across Species Susceptibility Tool for Rapid Assessment of Protein Conservation

Published on: February 10, 2023

3.3K
Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

3.1K

Related Experiment Videos

Last Updated: Feb 20, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

8.1K
Demonstration of the Sequence Alignment to Predict Across Species Susceptibility Tool for Rapid Assessment of Protein Conservation
16:02

Demonstration of the Sequence Alignment to Predict Across Species Susceptibility Tool for Rapid Assessment of Protein Conservation

Published on: February 10, 2023

3.3K
Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

3.1K

Area of Science:

  • Genetics and Genomics
  • Cardiovascular Medicine
  • Neurology

Background:

  • The TTR V142I variant is the most common pathogenic transthyretin variant causing variant transthyretin amyloidosis in the US.
  • This condition predominantly manifests as heart failure (HF) and cardiomyopathy (CM), with common co-occurrences of atrial fibrillation (AF) or atrial flutter (AFL), carpal tunnel syndrome (CTS), spinal stenosis (SS), and neuropathy.

Purpose of the Study:

  • To investigate the association between TTR V142I carrier status and established clinical outcomes.
  • To assess the impact of the V142I variant on various health conditions and mortality.

Main Methods:

  • A retrospective cohort study was conducted using data from the Million Veteran Program (MVP).
  • Individuals of African ancestry with at least one V142I allele were matched with control subjects based on race, sex, and birth year.
  • Outcomes analyzed included HF/CM, AF/AFL, CTS, SS, neuropathy, all-cause mortality, cardiovascular mortality, and HF-related hospitalization, analyzed using cumulative incidence and multivariable Cox regression.

Main Results:

  • The study included 2,658 V142I carriers and 13,459 matched controls.
  • V142I carriers showed significantly higher risks for HF/CM, AF/AFL, CTS, SS, and neuropathy after multivariable adjustment.
  • Carriers also faced increased risks for all-cause mortality, cardiovascular mortality, and HF-related hospitalization.

Conclusions:

  • The TTR V142I variant is linked to systemic manifestations of variant transthyretin amyloidosis.
  • Increased awareness and earlier diagnostic efforts are essential for high-risk populations carrying the TTR V142I variant.