Skip to main content

Main menu

  • Home
  • Our journals
    • Clinical Medicine
    • Future Healthcare Journal
  • Subject collections
  • About the RCP
  • Contact us

Clinical Medicine Journal

  • ClinMed Home
  • Content
    • Current
    • Ahead of print
    • Archive
  • Author guidance
    • Instructions for authors
    • Submit online
  • About ClinMed
    • Scope
    • Editorial board
    • Policies
    • Information for reviewers
    • Advertising

User menu

  • Log in

Search

  • Advanced search
RCP Journals
Home
  • Log in
  • Home
  • Our journals
    • Clinical Medicine
    • Future Healthcare Journal
  • Subject collections
  • About the RCP
  • Contact us
Advanced

Clinical Medicine Journal

clinmedicine Logo
  • ClinMed Home
  • Content
    • Current
    • Ahead of print
    • Archive
  • Author guidance
    • Instructions for authors
    • Submit online
  • About ClinMed
    • Scope
    • Editorial board
    • Policies
    • Information for reviewers
    • Advertising

Applications of pharmacogenetics: importance in the treatment of diabetes

Augustin Brooks
Download PDF
DOI: https://doi.org/10.7861/clinmedicine.10-2-203a
Clin Med April 2010
Augustin Brooks
Royal Devon and Exeter Hospital
Roles: Specialist trainee (ST5) diabetes and endocrinology
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • Info & Metrics
Loading

Editor – It is with interest that I read the recent article by Munir Pirmohamed (Clin Med October 2009 pp 493–5). The article explained how genotype testing might guide drug choice. I would like to highlight how detection of individual gene mutations is being used to influence drug therapy within the specialty of diabetes.

The realisation that some forms of diabetes occur as a result of monogenic mutations has allowed clinicians to optimise patient therapy by choosing drugs that are more likely to overcome the consequences of particular mutations.

Mature Onset Diabetes of the Young (MODY) is an inherited form of diabetes that often presents before the age of 25 years. Identification of genes causing MODY has allowed alternatives to insulin treatment to be offered to patients. Hepatocyte nuclear factor 1 (HNF-1) and glucokinase mutations are the most common causes of MODY.1 HNF-1α diabetes has a marked sensitivity to sulphonylureas, to the extent that patients can have improved diabetes control with a switch from insulin treatment to sulphonylurea therapy if the mutation is identified. Patients with MODY due to heterozygous glucokinase mutations often do not require insulin treatment at all and may be able to come off treatment altogether.

Permanent neonatal diabetes is a non-autoimmune condition that usually presents before the age of 18 months. It can be caused by monogenic mutations in the KCNJ11 and ABCC8 genes that encode constituents of the -cell KATP channel. Detection of these mutations allows clinicians to offer treatment with sulphonylureas, which act directly on the KATP channel in an attempt to overcome the clinical effects of the mutation. This allows a more readily administered oral treatment with improved disease control in neonates.2,3

The specialty of diabetes has had the good fortune to be able to provide concrete examples of how detection of genetic mutations might influence drug choice in small subgroups of patients; it must be hoped that the application of pharmacogenetics will become more widespread within all areas of medicine to allow improved patient care in the near future.

Footnotes

  • Please submit letters for the Editor's consideration within three weeks of receipt of the Journal. Letters should ideally be limited to 350 words, and sent by email to: Clinicalmedicine{at}rcplondon.ac.uk

  • © 2010 Royal College of Physicians

References

  1. ↵
    1. Hattersley AT,
    2. Pearson ER
    . Minireview: pharmacogenetics and beyond: the interaction of therapeutic response, beta-cell physiology, and genetics in diabetes. Endocrinology 2006; 147: 2657–63.
    OpenUrlCrossRefPubMed
  2. ↵
    1. Pearson ER,
    2. Flechtner I,
    3. Njolstad PR,
    4. et al
    . Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006; 355: 467–77.doi:10.1056/NEJMoa061759
    OpenUrlCrossRefPubMed
  3. ↵
    1. Klupa T,
    2. Kowalska I,
    3. Wyka K,
    4. et al
    . Mutations in the ABCC8 [SUR1 subunit of the K[ATP] channel] gene are associated with a variable clinical phenotype. Clin Endocrinol [Oxf] 2009; 71: 358–62.
    OpenUrlCrossRefPubMed
Back to top
Previous articleNext article

Article Tools

Download PDF
Article Alerts
Sign In to Email Alerts with your Email Address
Citation Tools
Applications of pharmacogenetics: importance in the treatment of diabetes
Augustin Brooks
Clinical Medicine Apr 2010, 10 (2) 203-204; DOI: 10.7861/clinmedicine.10-2-203a

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Share
Applications of pharmacogenetics: importance in the treatment of diabetes
Augustin Brooks
Clinical Medicine Apr 2010, 10 (2) 203-204; DOI: 10.7861/clinmedicine.10-2-203a
del.icio.us logo Digg logo Reddit logo Twitter logo CiteULike logo Facebook logo Google logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One

Jump to section

  • Article
    • Footnotes
    • References
  • Info & Metrics

Related Articles

  • No related articles found.
  • PubMed
  • Google Scholar

Cited By...

  • No citing articles found.
  • Google Scholar

More in this TOC Section

  • JAK-inhibition as a therapeutic strategy for refractory primary systemic vasculitides
  • Response
  • Functional disorders and chronic pain
Show more Letters to the editor

Similar Articles

Navigate this Journal

  • Journal Home
  • Current Issue
  • Ahead of Print
  • Archive

Related Links

  • ClinMed - Home
  • FHJ - Home
clinmedicine Footer Logo
  • Home
  • Journals
  • Contact us
  • Advertise
HighWire Press, Inc.

Follow Us:

  • Follow HighWire Origins on Twitter
  • Visit HighWire Origins on Facebook

Copyright © 2021 by the Royal College of Physicians