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

Eva Bagyinszky1, Hye-Mi Lee2, Vo Van Giau3

  • 1Department of Bionano Technology, Gachon University, Sungnam 13120, Korea. navigator120@gmail.com.

International Journal of Molecular Sciences
|September 12, 2018
PubMed
Summary

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

Developmental Neurotoxicity of Short-Chain Phthalates in Human Neurospheres.

Environmental toxicology and pharmacology·2026
Same author

<i>APOE</i> Genotype Modifies the Predictive Performance of Plasma Biomarkers for Amyloid Plaque Burden in Subjective Cognitive Decline.

Journal of Korean medical science·2026
Same author

Mixing-sequence-governed dispersion and processability of electrode slurries with carboxymethyl cellulose and cellulose nanofibrils.

Carbohydrate polymers·2026
Same author

Speech Recognition-Based Dietary Assessment Tool for Older Adults: Validation and Usability Study.

JMIR aging·2026
Same author

A clinically feasible framework to estimate tau pathology and clinical-biological discordance in the Alzheimer's disease spectrum.

Alzheimer's research & therapy·2026
Same author

Prediction of cognitive impairment through speech data analysis: A comparative evaluation of deep learning models.

PloS one·2026

A PSEN1 mutation (p.Thr116Ile) causes early-onset Alzheimer's disease (EOAD) in Korean families. This mutation disrupts the hydrophilic loop I (HL-I) in PSEN1, a critical region for protein function.

Area of Science:

  • Genetics
  • Neuroscience
  • Biochemistry

Background:

  • Autosomal dominant inheritance patterns are observed in some forms of Alzheimer's disease.
  • Early-onset Alzheimer's disease (EOAD) is often linked to mutations in specific genes, including PSEN1.
  • The PSEN1 gene encodes presenilin-1, a key component of the gamma-secretase complex involved in amyloid-beta production.

Purpose of the Study:

  • To investigate the pathogenic mechanisms of the PSEN1 p.Thr116Ile mutation.
  • To analyze the structural and functional consequences of this mutation in the context of familial Alzheimer's disease.
  • To explore the role of the hydrophilic loop I (HL-I) in PSEN1 function and its implications for disease onset.

Main Methods:

  • In silico predictions and 3D modeling were used to analyze the structural impact of the PSEN1 mutation.
Keywords:
PSEN1 Thr116Ile mutationfamilialmutationpresenilin-1young onset Alzheimer’s dementia

Related Experiment Videos

  • Clinical data from Korean families with autosomal dominant inheritance and the identified PSEN1 mutation were analyzed.
  • Literature review of other PSEN1 mutations in the HL-I loop and their association with young onset AD (YOND) was performed.

    • Main Results:

    • The PSEN1 p.Thr116Ile mutation was identified in two Korean families with autosomal dominant inheritance, presenting with clinical symptoms in their 30s.
    • In silico analysis revealed significant structural aberrations in the HL-I loop, with the isoleucine substitution potentially altering loop orientation and disrupting hydrogen bonds.
    • The HL-I loop was confirmed as a conserved and critical region of PSEN1, with other mutations in this loop also associated with YOND.

    Conclusions:

    • The PSEN1 p.Thr116Ile mutation is a pathogenic variant leading to early-onset Alzheimer's disease.
    • Structural disruptions in the HL-I loop of PSEN1 are critical for its function and can lead to neurodegeneration.
    • The HL-I loop is a crucial functional domain within PSEN1, and mutations here are strongly associated with young onset Alzheimer's disease.