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

Insulin gene mutations and diabetes.

Masahiro Nishi1, Kishio Nanjo2

  • 1Department of Metabolism and Clinical Nutrition, Wakayama Medical University.

Journal of Diabetes Investigation
|May 21, 2014
PubMed
Summary

Insulin gene mutations can cause hyperinsulinemia or neonatal diabetes. Understanding these mutations is key to unraveling beta-cell biology and developing new diabetes treatments.

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

An integrative framework for estimating personal healthy life expectancy from personal health records.

Digital health·2026
Same author

Practical adaptability of a pre-hospital prognostic prediction model for patients following out-of-hospital cardiac arrest during the COVID-19 pandemic.

BMJ health & care informatics·2026
Same author

Remote non-invasive ICT monitoring for heart failure: a feasibility study.

Heart and vessels·2025
Same author

Implementing the Certified Heart Failure Educator System in Japan　- Initial Experience.

Circulation journal : official journal of the Japanese Circulation Society·2025
Same author

Tryptophan-sensing receptor GPR142 expression levels are directly regulated by proinflammatory cytokines in ghrelin-producing cells.

FEBS open bio·2025
Same author

Hospitalized Patients, Treatments, and Quality of Care for Cardiovascular Diseases in Japan　- Outline of the Nationwide JROAD Investigation.

Circulation journal : official journal of the Japanese Circulation Society·2024

Area of Science:

  • Endocrinology
  • Molecular Biology
  • Genetics

Background:

  • Mutations in the insulin gene can lead to hyperinsulinemia or hyperproinsulinemia, often due to altered amino acid sequences affecting receptor binding or processing.
  • Specific examples include insulin Chicago, Los Angeles, and Wakayama, as well as proinsulin variants like Providence, Tokyo, Kyoto, and Oxford.
  • While initially rare and associated with mild glucose intolerance, insulin gene mutations are now recognized as a significant cause of neonatal diabetes.

Purpose of the Study:

  • To review the diverse roles of insulin gene mutations in diabetes pathogenesis.
  • To highlight the distinction between mutations causing hyperinsulinemia and those leading to neonatal diabetes.
  • To emphasize the growing importance of insulin gene mutations in understanding beta-cell biology.
Keywords:
Endoplasmic reticulum stressInsulin gene mutationNeonatal diabetes

Related Experiment Videos

Main Methods:

  • Literature review and analysis of identified insulin and proinsulin gene mutations.
  • Categorization of mutations based on their effects (e.g., hyperinsulinemia, neonatal diabetes, processing defects, sorting abnormalities).
  • Discussion of the molecular consequences, including disulfide bond disruption, endoplasmic reticulum stress, and beta-cell apoptosis.

Main Results:

  • Identified three mutant insulins (Chicago, Los Angeles, Wakayama) and four proinsulin variants (Providence, Tokyo, Kyoto, Oxford) associated with hyperinsulinemia.
  • Demonstrated that certain insulin gene mutations are a primary cause of neonatal diabetes, distinct from those causing hyperinsulinemia.
  • Highlighted mutations affecting cysteine residues lead to misfolded protein accumulation and beta-cell dysfunction.
  • Reported associations with Maturity-Onset Diabetes of the Young (MODY) and autoantibody-negative type 1-like diabetes.

Conclusions:

  • Insulin gene mutations represent a spectrum of genetic defects contributing to various forms of diabetes.
  • The identification of these mutations has significantly advanced our understanding of beta-cell function and dysfunction.
  • Further research into insulin gene mutations is crucial for improving diabetes diagnosis and treatment strategies.