We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us
LGC Clinical Diagnostics

Download Mobile App




Rapid Genetic Test Developed for an Often Fatal Mitochondrial Disease

By LabMedica International staff writers
Posted on 19 Jul 2016
Researchers have discovered disease-causing inherited mutations in the TMEM126B gene and developed a test providing rapid diagnosis of related mitochondrial disorders. More...
Defects in TMEM126B cause problems with energy generation in muscles, and can lead to muscular weakness, blindness, fatal heart failure, liver failure, learning disability, diabetes, and seizures. There is currently no cure and affected children often die in early infancy.

A team of medics and scientists at Wellcome Trust Centre for Mitochondrial Research, Newcastle University (Newcastle, Tyne & Wear, UK), together with international collaborators identified the mutations and used next generation sequencing (NGS) to develop the test, which provides a result within 2-3 days. Their research confirmed the identity of a mutation in TMEM126B that causes mitochondrial disease affecting Complex I, one of five complexes involved in energy production. TMEM126B normally makes a protein necessary for complex I assembly.

First author Charlotte Alston, PhD student, described the technique, which has already identified 6 patients from 4 families affected by this form of mitochondrial disease: “Identifying a fault in Complex I [...] combined with our custom gene capture and the latest sequencing technology means we can screen many more genes to diagnose this debilitating disease. It means families can get a rapid diagnosis within days rather than the weeks and months that testing can currently take. For families who are waiting on a genetic diagnosis before trying for another baby, or they may already be expecting their next child, time really is of the essence.”

Senior author Professor Rob Taylor said: “The diagnosis of mitochondrial disease is often a complicated and time consuming process. There are over 1,300 potential genes that can lead to disease and, as such, finding the genetic cause is sometimes like looking for a needle in a haystack.”

For a family with one child affected with this type of mitochondrial disease, there is a 25% chance of each further child being affected. Professor Taylor added: “There is sadly no cure for mitochondrial disease so rapid diagnosis means parents who are wanting to have further children can opt for prenatal testing to ensure future children are healthy and without risk of developing severe disease. It provides options for families at risk of an otherwise incurable disease.”

The study, by Alston CL et al, was published July 7, 2016, in the American Journal of Human Genetics.

Related Links:
Newcastle University
Wellcome Trust Centre for Mitochondrial Research


New
Gold Member
Serological Pipets
INTEGRA Serological Pipets
3-Part Differential Hematology Analyzer
Swelab Alfa Plus Sampler
New
Automated PCR Setup
ESTREAM
New
Drug Test Kit
DrugCheck 3000
Read the full article by registering today, it's FREE! It's Free!
Register now for FREE to LabMedica.com and get access to news and events that shape the world of Clinical Laboratory Medicine.
  • Free digital version edition of LabMedica International sent by email on regular basis
  • Free print version of LabMedica International magazine (available only outside USA and Canada).
  • Free and unlimited access to back issues of LabMedica International in digital format
  • Free LabMedica International Newsletter sent every week containing the latest news
  • Free breaking news sent via email
  • Free access to Events Calendar
  • Free access to LinkXpress new product services
  • REGISTRATION IS FREE AND EASY!
Click here to Register








Channels

Hematology

view channel
Image: CitoCBC is the world first cartridge-based CBC to be granted CLIA Waived status by FDA (Photo courtesy of CytoChip)

Disposable Cartridge-Based Test Delivers Rapid and Accurate CBC Results

Complete Blood Count (CBC) is one of the most commonly ordered lab tests, crucial for diagnosing diseases, monitoring therapies, and conducting routine health screenings. However, more than 90% of physician... Read more

Immunology

view channel
Image: A simple blood test could replace surgical biopsies for early detecion of heart transplant rejection (Photo courtesy of Shutterstock)

Blood Test Detects Organ Rejection in Heart Transplant Patients

Following a heart transplant, patients are required to undergo surgical biopsies so that physicians can assess the possibility of organ rejection. Rejection happens when the recipient’s immune system identifies... Read more

Pathology

view channel
These images illustrate how precision oncology Organ Chips recapitulate individual patients’ responses to chemotherapy (Photo courtesy of Wyss Institute at Harvard University)

Cancer Chip Accurately Predicts Patient-Specific Chemotherapy Response

Esophageal adenocarcinoma (EAC), one of the two primary types of esophageal cancer, ranks as the sixth leading cause of cancer-related deaths worldwide and currently lacks effective targeted therapies.... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.