Featured Research

from universities, journals, and other organizations

Quick And Easy Diagnosis For Mitochondrial Disorders

Date:
October 23, 2009
Source:
BioMed Central
Summary:
Soon you could be genetically screened for mitochondrial disorders quickly and comprehensively. Researchers outline an innovative clinical diagnostic test for the early identification of a wide range of mitochondrial disorders. Mutations to one of the mitochondrial genes, or to a number of nuclear genes with roles in mitochondrial function, can cause diseases which have very similar symptoms, making them difficult to diagnose and treat.

Soon you could be genetically screened for mitochondrial disorders quickly and comprehensively. Research published in BioMed Central's open access journal, Genome Medicine, outlines an innovative clinical diagnostic test for the early identification of a wide range of mitochondrial disorders.

Related Articles


Mutations to one of the mitochondrial genes, or to a number of nuclear genes with roles in mitochondrial function, can cause diseases which have very similar symptoms, making them difficult to diagnose and treat.

Researchers from the Seattle Children's Research Institute teamed up with researchers from the Genome Sciences and Pediatrics Departments of the University of Washington to create a molecular diagnostic tool that uses targeted genetic sequencing to screen patient's DNA for variations in 362 genes which have been associated with mitochondrial disease or mitochondrial function.

They tested this tool by using it to screen three DNA samples. Two of these samples were taken from patients with mitochondrial disorders, who had been previously diagnosed by traditional sequencing methods, while the third came from a healthy individual selected from the Coriell Repositories HapMap catalogue of human DNA samples.

The researchers then assessed the potential impact of all the novel mutations they detected. They found that the new method was able to accurately identify the mutation underlying each patient's condition. The large number of candidate genes examined is likely to increase sensitivity for identifying previously unknown genes responsible for mitochondrial disorders.

"Early and effective diagnosis [of mitochondrial disorders] is crucial for permitting appropriate management and accurate counselling," say lead authors, Jay Shendure and Sihoun Hahn.

"Mitochondrial diseases affect as many as 1 in 5000 children; however diagnosis is notoriously difficult due to the huge number of genes potentially responsible for these disorders. For these reasons, some patients may remain undiagnosed and even die of untreated disease," according to Dr Hahn. In addition to providing accurate diagnosis, the large number of genes used in this method allows a large number of potentially harmful mutations to be detected which might otherwise be missed. He adds, "Our study indicates that the use of next generation sequencing technology holds great promise as a tool for screening mitochondrial disorders."


Story Source:

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


Journal Reference:

  1. Valeria Vasta, Sarah B Ng, Emily H Turner, Jay Shendure and Si Houn Hahn. Next generation sequence analysis for mitochondrial disorders. Genome Medicine, (in press) [link]

Cite This Page:

BioMed Central. "Quick And Easy Diagnosis For Mitochondrial Disorders." ScienceDaily. ScienceDaily, 23 October 2009. <www.sciencedaily.com/releases/2009/10/091022202715.htm>.
BioMed Central. (2009, October 23). Quick And Easy Diagnosis For Mitochondrial Disorders. ScienceDaily. Retrieved April 18, 2015 from www.sciencedaily.com/releases/2009/10/091022202715.htm
BioMed Central. "Quick And Easy Diagnosis For Mitochondrial Disorders." ScienceDaily. www.sciencedaily.com/releases/2009/10/091022202715.htm (accessed April 18, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, April 18, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Our Love Of Puppy Dog Eyes Explained By Science

Our Love Of Puppy Dog Eyes Explained By Science

Newsy (Apr. 17, 2015) Researchers found a spike in oxytocin occurs in both humans and dogs when they gaze into each other&apos;s eyes. Video provided by Newsy
Powered by NewsLook.com
Dr. Oz Under Fire For 'Quack Treatments' Yet Again

Dr. Oz Under Fire For 'Quack Treatments' Yet Again

Newsy (Apr. 17, 2015) Ten doctors signed a letter urging Columbia University to drop Dr. Oz as vice chair of its department of surgery, saying he plugs "quack" treatments. Video provided by Newsy
Powered by NewsLook.com
Scientists Find Link Between Gestational Diabetes And Autism

Scientists Find Link Between Gestational Diabetes And Autism

Newsy (Apr. 17, 2015) Researchers who analyzed data from over 300,000 kids and their mothers say they&apos;ve found a link between gestational diabetes and autism. Video provided by Newsy
Powered by NewsLook.com
Video Messages Help Reassure Dementia Patients

Video Messages Help Reassure Dementia Patients

AP (Apr. 17, 2015) Family members are prerecording messages as part of a unique pilot program at the Hebrew Home in New York. The videos are trying to help victims of Alzheimer&apos;s disease and other forms of dementia break through the morning fog of forgetfulness. (April 17) 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