Featured Research

from universities, journals, and other organizations

Unique Alzheimer study of four siblings

Date:
May 26, 2011
Source:
Karolinska Institutet
Summary:
Four siblings in a family affected by early-onset Alzheimer’s have been studied by a group of researchers in Sweden. The study has been a unique opportunity to make comparative studies and to monitor the development of the disease over a prolonged period of time. Being able to monitor the disease long before diagnosis up until the death of the affected siblings has provided valuable insights into the disease’s time course – something that might one day lead to improved therapies for many Alzheimer’s patients.

Four siblings in a family affected by early-onset Alzheimer's have been studied by a group of researchers at Karolinska Institutet in Sweden. The study has been a unique opportunity to make comparative studies and to monitor the development of the disease over a prolonged period of time. Being able to monitor the disease long before diagnosis up until the death of the affected siblings has provided valuable insights into the disease's time course -- something that might one day lead to improved therapies for many Alzheimer's patients.

In Sweden, over 100,000 patients live with Alzheimer's disease, the most common form of dementia. Age is the largest risk factor for the disease, and while sufferers are mainly elderly, a significant number, some 10,000, are under 65. Approximately one to five per cent of all Alzheimer's patients have an early, aggressive form of the disease, which is caused by inherited mutations on three specific genes.

For the present study, which is published in The Journal of Alzheimer's Disease, the group of researchers at Karolinska Institutet monitored four siblings in a family with a history of this familial form of the disease, where two of the siblings carried one of the typical mutations and were sick, and two were non-bearers and healthy.

"By making repeated studies of these individuals we've been able to trace the development of the disease over time," says principal investigator Professor Agneta Nordberg of the Department of Neurobiology, Care Sciences and Society at Karolinska Institutet. "We've monitored the family from the time we detected the mutation on chromosome 14 of two of the siblings up until their deaths several years later."

The siblings with the mutation developed the disease before the age of 40 and died at the ages of 47 and 50. The team was able to compare the two sick siblings with the two healthy ones, and with the help of PET scans they were able to establish a decline in glucose metabolism, which is a gauge of neuronal communication, before the onset of symptoms and diagnosis. The two non-bearer healthy siblings showed neither change in glucose metabolism in the brain nor impaired cognition.

"If we knew that someone was carrying one of the mutations on the three specific genes, we could examine his or her brain and see pathological changes many years before the onset of the disease, and so treatment could be started much earlier than is currently the case," says Michael Sch๖ll, a Doctoral Student in the group that conducted the study.

"This type of study is vital to our understanding of Alzheimer's disease. The disease cannot be halted at present, and treatment is often administered too late," explains Professor Nordberg, adding that the results of this study contribute to the medical understanding of the disease and of when a future treatment is to be given in order to have an optimal impact on its course.

"Knowledge of the inherited forms of Alzheimer's, which we know are more likely to develop, can be applied to all Alzheimer's research," she continues. "The time course of Alzheimer's often begins long before diagnosis, and if we know how the disease develops in the brain we will hopefully one day be able to come up with new therapies and new drugs."


Story Source:

The above story is based on materials provided by Karolinska Institutet. Note: Materials may be edited for content and length.


Journal Reference:

  1. Sch๖ll M, Almkvist O, Bogdanovic N, Wall A, Lๅngstr๖m B, Viitanen M, Nordberg A. Time Course of Glucose Metabolism in Relation to Cognitive Performance and Postmortem Neuropathology in Met146Val PSEN1 Mutation Carriers. Journal of Alzheimer’s Disease, 2011; 24 (3) DOI: 10.3233/JAD-2011-101563

Cite This Page:

Karolinska Institutet. "Unique Alzheimer study of four siblings." ScienceDaily. ScienceDaily, 26 May 2011. <www.sciencedaily.com/releases/2011/05/110526064458.htm>.
Karolinska Institutet. (2011, May 26). Unique Alzheimer study of four siblings. ScienceDaily. Retrieved July 24, 2014 from www.sciencedaily.com/releases/2011/05/110526064458.htm
Karolinska Institutet. "Unique Alzheimer study of four siblings." ScienceDaily. www.sciencedaily.com/releases/2011/05/110526064458.htm (accessed July 24, 2014).

Share This




More Health & Medicine News

Thursday, July 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

New Painkiller Designed To Discourage Abuse: Will It Work?

New Painkiller Designed To Discourage Abuse: Will It Work?

Newsy (July 24, 2014) — The FDA approved Targiniq ER on Wednesday, a painkiller designed to keep users from abusing it. Like any new medication, however, it has doubters. Video provided by Newsy
Powered by NewsLook.com
Doctor At Forefront Of Fighting Ebola Outbreak Gets Ebola

Doctor At Forefront Of Fighting Ebola Outbreak Gets Ebola

Newsy (July 24, 2014) — Sheik Umar Khan has treated many of the people infected in the Ebola outbreak, and now he's become one of them. Video provided by Newsy
Powered by NewsLook.com
Condemned Man's US Execution Takes Nearly Two Hours

Condemned Man's US Execution Takes Nearly Two Hours

AFP (July 24, 2014) — America's death penalty debate raged Thursday after it took nearly two hours for Arizona to execute a prisoner who lost a Supreme Court battle challenging the experimental lethal drug cocktail. Duration: 00:55 Video provided by AFP
Powered by NewsLook.com
China's Ageing Millions Look Forward to Bleak Future

China's Ageing Millions Look Forward to Bleak Future

AFP (July 24, 2014) — China's elderly population is expanding so quickly that children struggle to look after them, pushing them to do something unexpected in Chinese society- move their parents into a nursing home. Duration: 02:07 Video provided by AFP
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:
from the past week

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