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 Experiment Videos

Postmortem molecular screening in unexplained sudden death.

Sumeet S Chugh1, Olga Senashova, Allison Watts

  • 1Division of Cardiology, Oregon Health and Science University, Portland, 97239, USA. chughs@ohsu.edu

Journal of the American College of Cardiology
|May 4, 2004
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

A Multimodal Artificial Intelligence Model to Guide Use of Whole-Pelvic Radiation Therapy in Patients with Localized Prostate Cancer: Exploratory Analysis of RTOG 9413.

Cancers·2026
Same author

Analytical and clinical performance of the updated Elecsys Anti-TPO II assay for the detection of antibodies against thyroid peroxidase to aid in the diagnosis of autoimmune thyroid diseases.

Clinical chemistry and laboratory medicine·2026
Same author

Twist1 overexpression models an aggressive subtype of pancreatic ductal adenocarcinoma in vivo.

Lab animal·2026
Same author

High frequency of RB1 mutations p16 positive early stage oropharyngeal carcinoma: A genomic and transcriptomic analysis.

Oral oncology·2026
Same author

Addition of Metastasis-Directed Therapy to Standard of Care for Oligometastatic Disease: Primary Aggregated Analysis of All Baskets from the Phase II Randomized EXTEND Trial.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology·2026
Same author

The Association of p27 With Prostate Cancer Outcomes: A Secondary Analysis of NRG/RTOG 8610 and 9202.

Advances in radiation oncology·2026
Same journal

Aortic Valve Replacement in Women of Reproductive Age.

Journal of the American College of Cardiology·2026
Same journal

Sudden Death in Cardio-Kidney-Metabolic Patients: Insights From FINE-HEART.

Journal of the American College of Cardiology·2026
Same journal

Ultra-Thin Sirolimus-Eluting Versus Everolimus-Eluting Stents in Diabetic Multivessel Coronary Artery Disease Patients: The TUXEDO-2 Trial.

Journal of the American College of Cardiology·2026
Same journal

Reframing Cardiometabolic Risk and Frailty Through Sarcopenic Obesity.

Journal of the American College of Cardiology·2026
Same journal

Imaging-Derived Sarcopenic Obesity and Cardiovascular Outcomes: Insights Into Heart Failure Risk and Muscle Biology.

Journal of the American College of Cardiology·2026
Same journal

The Measure of a Leader: Lessons in Leadership From Eugene Braunwald.

Journal of the American College of Cardiology·2026
See all related articles

Genetic analysis of unexplained sudden cardiac death (SCD) found defects in only 2 of 12 patients. Further discovery of novel gene defects is needed to understand SCD mechanisms.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Forensic Pathology

Background:

  • Unexplained sudden cardiac death (SCD) accounts for up to 5% of all SCD cases.
  • Postmortem genetic analysis of archived tissue offers a method to identify SCD etiologies.
  • Candidate gene approaches are utilized in postmortem genetic investigations.

Purpose of the Study:

  • To determine the prevalence of defects in arrhythmia-related candidate genes in patients with unexplained sudden cardiac death (SCD).
  • To investigate the genetic underpinnings of unexplained SCD in a selected patient cohort.

Main Methods:

  • Analysis of five candidate genes (KCNQ1, KCNH2/HERG, SCN5A, KCNE1, KCNE2) in 12 adult subjects with unexplained sudden death.
  • Deoxyribonucleic acid (DNA) extraction from archived, paraffin-embedded myocardial tissue.

Related Experiment Videos

  • Patch-clamp recordings and Western blot analysis to characterize identified mutations.

    • Main Results:

    • A heterozygous missense mutation (G1681A, A561T) in the HERG gene was identified in one patient.
    • A homozygous missense mutation (G1681A, A561T) in the HERG gene was identified in a second patient.
    • The A561T mutation impaired HERG channel function and protein trafficking, leading to loss of current.

    Conclusions:

    • Defects in the examined HERG gene were found in 2 out of 12 patients with unexplained sudden death.
    • The study highlights the limited yield of current candidate gene screening for unexplained SCD.
    • Elucidating SCD mechanisms likely requires identifying additional, novel arrhythmia-associated gene defects.