Navigation Links
Mayo Clinic Study Finds Gene Bringing Together Animal and Human Research in Alcoholism
Date:4/23/2009

ROCHESTER, Minn., April 23 /PRNewswire-USNewswire/ -- An important genetic study conducted through Mayo Clinic has identified vital new information concerning alcoholism in subjects with European ancestry, according to a recent issue of Alcohol: Clinical and Experimental Research.

Research findings indicate that alcohol dependence is highly inheritable, although specific genes and their variations associated with this illness remain unknown. Animal model studies allow identification of potential candidate genes but their relevance to alcoholism in humans and its complications, including alcohol withdrawal and seizures, require additional research. Under the direction of Victor Karpyak, M.D., Ph.D., of the Mayo Clinic Department of Psychiatry and Psychology, a team of clinical and basic scientists investigated the sequence of the human MPDZ gene and its association with risks for alcohol dependence and alcohol withdrawal seizures.

"We have long known that the presence of severe withdrawal and seizures indicates strong physical dependence on alcohol," states Dr. Karpyak. "Focus on this group of subjects increases our chances to successfully identify the genetic variations associated with alcoholism in general and the presence of withdrawal symptoms specifically."

Sophisticated genetic research in mice isolated small regions on mouse chromosomes linked to severity of acute alcohol and barbiturate withdrawal measured by the presence and severity of seizures. Further research demonstrated that the MPDZ gene is the only one in this chromosome region which has variants associated with severity of acute alcohol and barbiturate withdrawal and seizures.

The MPDZ protein is an important scaffolding brain protein, responsible for synaptic structure and plasticity. It is also known to be involved in learning and memory as well as seizures and epilepsy and, thus, is a good candidate for the human study focused on genetic predictors for alcohol withdrawal. Unfortunately, little was known about sequence variability of the MPDZ gene in humans. It is also a very long gene and its sequencing required considerable effort and costs.

To investigate the relevance of the model findings in animals for human alcoholism, Dr. Karpyak and his collaborators resequenced the human MPDZ gene in 61 subjects with a history of alcohol withdrawal seizures, 59 subjects with a history of withdrawal without seizures and 64 samples from non-alcoholic subjects -- all with European American ancestry. Sixty-seven new, mostly rare variants were discovered in the human MPDZ gene. Sequencing allowed the first opportunity of comparing the MPDZ gene in humans and mice. The new Mayo study found that the human gene does not have variations identical to those comprising the MPDZ gene associated with alcohol withdrawal seizures in mice.

Second, researchers used common variants to compare haplotype structure of the MPDZ gene in alcohol dependent subjects with and without history of withdrawal seizures and in controls who did not have alcoholism. The study revealed a significant association between MPDZ gene variant alcohol-dependency without seizures, compared to the control subjects. Contrary to initial hypothesis and animal findings, the study showed no significant association between MPDZ sequence variants and withdrawal seizures in humans. This suggests the potential role of MPDZ in alcoholism and/or related phenotypes other than alcohol withdrawal seizures.

This important new information supports further investigation of the role of MPDZ gene in alcoholism and its complications including withdrawal syndrome. It also indicates the importance of close collaboration between clinical and basic scientists that could provide critical insights into the mechanism of the association and reveal significant genetic markers of alcoholism.

About Mayo Clinic

Mayo Clinic is the first and largest integrated, not-for-profit group practice in the world. Doctors from every medical specialty work together to care for patients, joined by common systems and a philosophy that "the needs of the patient come first." More than 3,300 physicians, scientists and researchers and 46,000 allied health staff work at Mayo Clinic, which has sites in Rochester, Minn., Jacksonville, Fla., and Scottsdale/Phoenix, Ariz. Collectively, the three locations treat more than half a million people each year. To obtain the latest news releases from Mayo Clinic, go to www.mayoclinic.org/news. MayoClinic.com (www.mayoclinic.com) is available as a resource for your health stories. For more on Mayo Clinic research, go to www.mayo.edu.


'/>"/>
SOURCE Mayo Clinic
Copyright©2009 PR Newswire.
All rights reserved

Related medicine news :

1. Anemia and tropical diseases; Is pharmacogenomics ready for the clinic?
2. Radiologists encouraged to look beyond cancer for clinically unseen diseases
3. Clinical depression linked to abnormal emotional brain circuits
4. Preclinical study suggests organ-transplant drug may aid in lupus fight
5. Mayo Clinic researchers discover new diagnostic test for detecting infection in prosthetic joints
6. AASM encourages those student-athletes at risk for developing osa to visit a sleep clinic
7. Thailand: Partners Open Free AIDS Treatment Clinic in Renowned AIDS Temple in Lop Buri
8. MinuteClinic Becomes Participating Provider with Assurant Health
9. Therap Services Continues to Hire Experienced Developmental Disability Industry Clinicians for its Customer Support Team
10. Acupuncturists Relocation Tightens Relationship With Fertility Clinic
11. Cardiovascular Technologies to be Highlighted at 5th Annual Cleveland Clinic Medical Innovation Summit, Oct. 1-3
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/25/2017)... ... 25, 2017 , ... The doctors at Wall Centre Dental are now expanding ... and require sedation to receive dental care. The doctors offer three treatment options to ... cleanings to oral surgery, at their dental office in Vancouver. Wall Centre Dental is ...
(Date:4/25/2017)... ... April 25, 2017 , ... Patients ... that achieves results in a fraction of the time as traditional braces – ... Significance Dental Specialists, now offers this revolutionary treatment with or without a referral. ...
(Date:4/25/2017)... ... April 25, 2017 , ... As Spring reignites vigilance ... research related to Zika virus during pregnancy, as well as other prenatal exposures ... science. , The Teratology Society is an international and multidisciplinary ...
(Date:4/25/2017)... (PRWEB) , ... April 25, 2017 , ... Buyers and ... recreational users to dispensaries and head shops –can’t help but be heartened by the ... the tell-tale cannabis odor aptly described as “skunk smell.” At last they can ...
(Date:4/25/2017)... Clara, CA (PRWEB) , ... April 25, 2017 ... ... announces the addition of predictive analytics to its patient care management module. Using ... compliance even before a patient has been initiated on continuous positive airway pressure ...
Breaking Medicine News(10 mins):
(Date:4/18/2017)... , April 18, 2017  Cardinal Health (NYSE: ... 1 fiscal 2017 earnings per share (EPS) guidance ... 2019.  This is in conjunction with this morning,s announcement ... Vein Thrombosis and Nutritional Insufficiency businesses. Cardinal ... continuing operations will be at the bottom of its ...
(Date:4/18/2017)... , April 18, 2017 Viverae ® , ... announce the integration of IBM ® Watson Campaign ... deliver targeted communications for a personalized experience. Through digital ... on their health in real time. The enhanced experience ... most to members, wherever they are in their journey ...
(Date:4/18/2017)... -- Astute Medical, Inc., developer of biomarkers for better healthcare, ... the 2017 National Kidney Foundation (NKF) Spring Clinical ... 22. Physicians will present data on two biomarkers, ... acute kidney injury (AKI) during the management of patients ... Elevated levels of TIMP-2 and IGFBP-7 have been shown ...
Breaking Medicine Technology: