Navigation Links
Families shed light on likely causative gene for Alzheimer's
Date:5/14/2008

The genetic profile of two large Georgia families with high rates of late-onset Alzheimer's disease points to a gene that may cause the disease, researchers say.

Genetic variations called single nucleotide polymorphisms, or SNPs, are common in DNA, but this pattern of SNPs shows up in nine out of 10 affected family members, says Dr. Shirley E. Poduslo, neuroscientist in the Medical College of Georgia Schools of Medicine and Graduate Studies and the Charlie Norwood Veterans Affairs Medical Center in Augusta.

The 10th family member had half the distinctive pattern. The SNPs also were found in the DNA of 36 percent of 200 other late-onset patients stored in the Alzheimers' DNA Bank.

"We were shocked; we had never seen anything like this before," Dr. Poduslo says of findings published online in the American Journal of Medical Genetics. "If we looked at unaffected spouses, their SNPs were all different. The variants consistently found in affected siblings are suggesting there is something in this gene. Now we have to go back and find what is in this gene that is making it so unique for Alzheimer's patients."

The variation was in the TRPC4AP gene, part of a large family of genes that is not well-studied but is believed to regulate calcium. Calcium is needed throughout the body but its dysregulation can result in inflammation, nerve cell death and possibly plaque formation as well, she says.

The finding provides new directions for research and possibly new treatment targets, Dr. Poduslo says. It also shows the important role large families affected by a disease can have in determining the cause of the disease.

The specific genetic mutation responsible still must be identified and will require sequencing the very large gene, or determining the order of the base pairs that form the rungs of the ladder-like DNA, Dr. Poduslo says. An SNP represents a change in either side of a rung. "The mutation could be a deletion of some of the nucleotides, could be an insertion, or something in the promoter gene that turns the gene off so it's never transcribed. It could be a wide variety of things, and that is what our next step is to identify the mutation." She'll work with The Scripps Research Institute in Jupiter, Fla., to expedite the required high-throughput analysis.

One of the families that provided the sentinel genetic information had 15 members, including five with Alzheimer's that started in their 60s and 70s; the second family had 14 members, six of whom had the disease. The disease incidence itself was notable and the incidence of the pattern of SNPs was equally so. "This to me is very, very striking. Genetics and lifestyle either could be the biggest risk factors," says Dr. Poduslo. "We looked at these families very, very carefully to see what in their background may make them different and we couldnt come up with anything. They were farmers living fairly healthy lifestyles."

Families donate to the Alzheimer's DNA bank to help others at this point and don't get feedback from findings generated by their genetic material, Dr. Poduslo says. "Right now, we have no way of treating it, so it's not going to help them. When we come up with new drugs so we can treat this disease, then it becomes important to identify it early and get treatment."


'/>"/>

Contact: Toni Baker
tbaker@mcg.edu
706-721-4421
Medical College of Georgia
Source:Eurekalert  

Related medicine news :

1. Practice-based intervention has sustained benefits for children and families
2. Houston Texans Star Players Ahman Green and Matt Schaub Help Easter Seals, Avondale House and Local Families Tackle Autism
3. New research may lead to earlier diagnosis and treatment of primary biliary cirrhosis in families
4. National Non-Profit Organization Offers Free Mental Health Services to Military and Military Families
5. Sun Safety Outreach to Families Takes Flight at the Plano Hot Air Balloon Festival
6. Pelosi Statement on House Vote to Extend Family and Medical Leave for Military Families
7. Dysfunctional families and bad neighborhoods may worsen asthma in children and adolescents
8. Families Invited to Celebrate Shire Day at Boston Childrens Museum
9. March of Dimes NICU Family Support(R) Programs Give Wisconsin Families Comfort and Information during a Crisis
10. March of Dimes NICU Family Support(R) Programs Give Florida Families Comfort and Information During a Crisis
11. Missouri House Recognizes Extraordinary Efforts Supporting National Guard Families
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Families shed light on likely causative gene for Alzheimer's
(Date:6/28/2017)... ... June 28, 2017 , ... Eating disorders have the highest mortality rate of ... one person dies as a direct result from an eating disorder in the U.S. ... providers. The iaedp Foundation meets this challenge by offering what has become the leading ...
(Date:6/28/2017)... ... June 28, 2017 , ... Park Systems , ... Luncheon for all SEMICONWest attendees and Park customers on July 11, 2017 ... from Dr. Sang-il Park, Chairman & CEO of Park Systems, and Prof. Krishna ...
(Date:6/28/2017)... (PRWEB) , ... June 28, 2017 , ... ... assistance and financial consultations to communities in northern Virginia and DC, is announcing ... help provide for patients with Alzheimer’s and other disorders that lead to memory ...
(Date:6/27/2017)... PA and London UK (PRWEB) , ... June 27, 2017 , ... ... applying to a clinical study is whether they can trust the sponsor to pay ... it is vital that sponsors and CROs establish payment strategies that encourage sites to ...
(Date:6/27/2017)... ... 27, 2017 , ... Building on the success of the ... sixth state to pass legislation which ensures that children can possess and use ... the states of Alabama, Arizona, Florida, Utah and Washington who have also approved ...
Breaking Medicine News(10 mins):
(Date:6/13/2017)... Ind. , June 13, 2017 Zimmer Biomet ... musculoskeletal healthcare, today announced that the U.S. Food and Drug ... dated June 3, 2015 relating to its Zhejiang, ... "The successful clearance of the ... manufacturing facility is a measure of the progress ...
(Date:6/10/2017)... June 9, 2017  Shane K. Burchfield, DPM, is recognized by ... as a Podiatrist in Alabama . ... First Foot Care. He brings over 20 years of experience, as ... and healthcare, to his role. ... PC is pleased to welcome you to his practice," ...
(Date:6/8/2017)... 8, 2017  Less than a month ago, amateur ... 200,000 companies, including hospital networks, in over 150 countries. ... of the largest online extortion attempts ever recorded. With ... it is imperative that providers understand where the risks ... this — and many other very real cyber threats.  ...
Breaking Medicine Technology: