Featured Research

from universities, journals, and other organizations

Mutation Related To ADHD Drug Metabolism Discovered

Date:
June 15, 2008
Source:
Medical University of South Carolina
Summary:
Researchers have discovered a gene mutation directly involved in the metabolism of the most common and perhaps most known medication used to treat ADHD, methylphenidate (MPH), or Ritalin. The discovery may open the door to pre-testing of patients for the appropriate ADHD medication, instead of having to undergo trial and error.

Researchers within the Darby Children’s Research Institute at the Medical University of South Carolina (MUSC) have discovered a gene mutation directly involved in the metabolism of the most common and perhaps most known medication used to treat ADHD, methylphenidate (MPH), or Ritalin. The discovery may open the door to pre-testing of patients for the appropriate ADHD medication, instead of having to undergo trial and error.

It’s not unusual for scientists to focus their work in one direction, only to discover something unexpected. Researchers within the Darby Children’s Research Institute at the Medical University of South Carolina (MUSC) have discovered a gene mutation directly involved in the metabolism of the most common and perhaps most known medication used to treat ADHD, methylphenidate (MPH), or Ritalinฎ. This research is described in full detail in the June 2008 issue of the American Journal of Human Genetics.

“It was really serendipity to come across this individual with the gene mutations, as he was part of a normal volunteer study we were working on,” said John S. Markowitz, Pharm.D., associate professor in the South Carolina College of Pharmacy’s Department of Pharmaceutical & Biomedical Sciences, who along other members of the Laboratory of Drug Disposition and Pharmacogenetics and additional collaborators worked on the unfolding discovery. “When it became clear that this individual could not metabolize or deactivate the psychostimulant methylphenidate, we immediately began to wonder about his genetic makeup and discovered that this individual had two gene mutations that had not been previously reported.”

Normally, MPH is quickly deactivated after taking a pill several times a day or through the use of time-release formulations. The carboxylesterase-1 gene (CES1) encodes for the principal liver enzyme that governs the metabolism of MPH, widely considered the “gold standard” treatment for ADHD. The discovery that individuals with a mutation in the CES1 gene has, for the first time, provided clinicians a means to pre-test individuals prior to the usual trial-and-error method used when choosing an initial ADHD medication. Currently, predicting how an individual might respond to any ADHD medication isn’t generally possible.

Imagine the relief a patient or parent of a treated child might feel, having access to advance testing to be sure that they can adequately metabolize this medication and avoid adverse effects and potential toxicity. Furthermore, pre-testing cold avoid the unnecessary time and expense of a failed drug trial by allowing the treating clinician to screen for the mutation and initiate a different type of drug at the outset of treatment that uses a different enzymatic pathway if the mutation is present.

“This discovery has told us a lot more beyond the MPH pharmacotherapy, and has led us to focus more closely on the wider implications the mutation itself and the CES1 enzyme produced. Importantly, there are all kinds of other medications with representatives from almost every drug class referred to as pro-drugs, including common blood pressure medications, that require functional CES1 to metabolize those drugs into their active forms,” Markowitz said. “Without functional CES1 to activate the administered drug, there is a very real potential for individuals taking these pro-drugs to experience medication-related problems. For instance, if it seems that the dose is not having its intended effect, many clinicians would increase the dose a few times before changing medications and the inactive or less active parent drug administered may accumulate and run the risk of unanticipated toxicity for the patient.”


Story Source:

The above story is based on materials provided by Medical University of South Carolina. Note: Materials may be edited for content and length.


Cite This Page:

Medical University of South Carolina. "Mutation Related To ADHD Drug Metabolism Discovered." ScienceDaily. ScienceDaily, 15 June 2008. <www.sciencedaily.com/releases/2008/06/080613165301.htm>.
Medical University of South Carolina. (2008, June 15). Mutation Related To ADHD Drug Metabolism Discovered. ScienceDaily. Retrieved October 20, 2014 from www.sciencedaily.com/releases/2008/06/080613165301.htm
Medical University of South Carolina. "Mutation Related To ADHD Drug Metabolism Discovered." ScienceDaily. www.sciencedaily.com/releases/2008/06/080613165301.htm (accessed October 20, 2014).

Share This



More Health & Medicine News

Monday, October 20, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

How Nigeria Beat Its Ebola Outbreak

How Nigeria Beat Its Ebola Outbreak

Newsy (Oct. 20, 2014) — The World Health Organization has declared Nigeria free of Ebola. Health experts credit a bit of luck and the government's initial response. Video provided by Newsy
Powered by NewsLook.com
Another Study Suggests Viagra Is Good For The Heart

Another Study Suggests Viagra Is Good For The Heart

Newsy (Oct. 20, 2014) — An ingredient in erectile-dysfunction medications such as Viagra could improve heart function. Perhaps not surprising, given Viagra's history. Video provided by Newsy
Powered by NewsLook.com
Ebola Worries End for Dozens on U.S. Watch Lists

Ebola Worries End for Dozens on U.S. Watch Lists

Reuters - US Online Video (Oct. 20, 2014) — Forty-three people who had contact with Thomas Eric Duncan, the first person diagnosed with Ebola in the U.S., were cleared overnight of twice-daily monitoring after 21 days of showing no symptoms. Rough Cut (no reporter narration). Video provided by Reuters
Powered by NewsLook.com
Fauci: Ebola Protocols to Focus on Training

Fauci: Ebola Protocols to Focus on Training

AP (Oct. 20, 2014) — Dr. Anthony Fauci, head of the National Institute of Allergy and Infectious Diseases, says he expects revised CDC protocols on Ebola to focus on training, observation and ensuring health care workers are more protected. (Oct. 20) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins