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

BACE1 and BACE2 in pathologic and normal human muscle.

Gaetano Vattemi1, W King Engel, Janis McFerrin

  • 1USC Neuromuscular Center, Department of Neurology, University of Southern California Keck School of Medicine, Good Samaritan Hospital, Los Angeles 90017-1912, USA.

Experimental Neurology
|March 6, 2003
PubMed
Summary

Beta-secretase 1 (BACE1) and Beta-secretase 2 (BACE2) enzymes are found in normal and diseased human muscle. These enzymes accumulate in inclusion-body myositis muscle fibers, suggesting a role beyond Alzheimer's 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

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

Human genetics·2026
Same author

Prevalence of Phelan McDermid Syndrome Estimated To Be ~1:7300 Using a Multisource Model.

Autism research : official journal of the International Society for Autism Research·2026
Same author

Co-expression-based models improve eQTL predictions for transcriptome-wide association studies and highlight new schizophrenia-associated genes.

Nature genetics·2026
Same author

Convergent molecular signatures across eating disorders and obsessive-compulsive disorder in the human brain.

Cell reports·2026
Same author

Altered neurodevelopmental trajectories of brain structure in Tourette syndrome and Chronic Tic Disorders.

medRxiv : the preprint server for health sciences·2026
Same author

Identification of moderate effect size genes in autism spectrum disorder through a novel gene pairing approach.

Communications biology·2026

Area of Science:

  • Biochemistry
  • Neuroscience
  • Muscle Biology

Background:

  • Beta-secretase 1 (BACE1) and Beta-secretase 2 (BACE2) process amyloid beta precursor protein (AbetaPP).
  • AbetaPP processing is crucial for understanding Alzheimer's disease (AD) pathogenesis.
  • Inclusion-body myositis (IBM) involves AbetaPP overproduction and amyloid-beta (Abeta) accumulation in muscle fibers.

Purpose of the Study:

  • To investigate the role of BACE1 and BACE2 in normal and diseased human muscle.
  • To examine BACE1 and BACE2 expression and localization in muscle biopsies.

Main Methods:

  • Immunocytochemistry and immunoblotting were used on 35 human muscle biopsies (s-IBM, h-IBM, controls).
  • Expression of BACE1 and BACE2 was also studied in cultured normal human muscle.

Related Experiment Videos

Main Results:

  • BACE1 and BACE2 are expressed in normal adult muscle at neuromuscular junctions and in cultured muscle.
  • These enzymes accumulate in plaque-like inclusions within vacuolated muscle fibers in s-IBM and h-IBM.
  • BACE1 and BACE2 are immunoreactive in necrotizing muscle fibers.

Conclusions:

  • BACE1 and BACE2 play roles in both normal and abnormal human muscle processes.
  • The functions of BACE1 and BACE2 extend beyond their previously known roles in Alzheimer's disease.
  • These findings suggest BACE1 and BACE2 as potential targets in muscle diseases.