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 Video

Updated: Jul 9, 2026

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry
06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

Published on: November 23, 2011

Post-mortem analysis for two prevalent beta-oxidation mutations in sudden infant death.

Zi Yang1, Patrick E Lantz, Jamal A Ibdah

  • 1Department of Internal Medicine, Wake Forest University School of Medicine, Winston-Salem, NC, USA.

Pediatrics International : Official Journal of the Japan Pediatric Society
|November 30, 2007
PubMed
Summary

Post-mortem molecular analysis of fatty acid oxidation disorders, like MCAD and MTP defects, is valuable in sudden infant death cases with hepatic steatosis. This testing identified mutations in 12.5% of infants with fatty liver disease.

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

Substrate recognition and transport mechanism of the human proton-coupled amino-acid transporter 1 (SLC36A1).

Nature communications·2026
Same author

Effects of acupuncture on cancer-related fatigue and quality of life in breast cancer survivors: A systematic review and meta-analysis of randomized controlled trials.

Medicine·2026
Same author

Dual-Layer PVA-HNT/PTFE Membranes for Boosted Antiwettability and Stability in Membrane Distillation.

Membranes·2026
Same author

Computed tomography enterography-based deep learning radiomics models of intestinal lesions and perienteric fat for predicting Crohn's disease activity: a multicenter cohort study.

Quantitative imaging in medicine and surgery·2026
Same author

Molecular basis for the dopamine reuptake and inhibition mechanism of human dopamine transporter.

Structure (London, England : 1993)·2026
Same author

Ultrasound-based multiregional radiomics nomogram for predicting recurrence in HER2-positive breast cancer.

BMC medical imaging·2026

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Pathology

Background:

  • Fatty acid oxidation disorders are linked to sudden infant death and hepatic steatosis.
  • Medium-chain acyl-coenzyme A dehydrogenase (MCAD) and mitochondrial trifunctional protein (MTP) are key enzymes in fatty acid metabolism.

Purpose of the Study:

  • To evaluate the utility of post-mortem molecular analysis for MCAD and MTP defects in unexplained sudden infant death (SID) cases with hepatic steatosis.
  • To identify specific mutations associated with these disorders in infants.

Main Methods:

  • Retrospective analysis of 220 sudden and unexplained infant death cases.
  • Assessment for hepatic steatosis via histological examination.
  • Mutation screening for MCAD and MTPalpha-subunit genes using DNA from paraffin-embedded liver tissue, employing single-strand conformation variance and nucleotide sequence analyses.

More Related Videos

Biochemical Measurement of Neonatal Hypoxia
13:13

Biochemical Measurement of Neonatal Hypoxia

Published on: August 24, 2011

Related Experiment Videos

Last Updated: Jul 9, 2026

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry
06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

Published on: November 23, 2011

Biochemical Measurement of Neonatal Hypoxia
13:13

Biochemical Measurement of Neonatal Hypoxia

Published on: August 24, 2011

Main Results:

  • Sixteen cases (7.3%) exhibited hepatic steatosis.
  • Disease-causing mutations were identified in two of these 16 cases (12.5%).
  • One case was homozygous for the MCAD A985G mutation; the other was compound heterozygous for the MTP G1528C mutation and a novel MTPalpha-subunit gene deletion.

Conclusions:

  • Hepatic steatosis is present in a significant proportion (7.3%) of sudden and unexplained infant deaths.
  • Post-mortem molecular analysis for MCAD A985G and MTP G1528C mutations is supported in SID cases with hepatic steatosis.