Rapid Genetic Test Developed for an Often Fatal Mitochondrial Disease
By LabMedica International staff writers Posted on 19 Jul 2016 |
Image: Mitochondria. Researchers have inherited mutations in the TMEM126B gene that cause debilitating and often fatal disease from infancy, and have developed a rapid diagnostic test that has already identified 6 patients from 4 families (Image courtesy of Newcastle University).
Researchers have discovered disease-causing inherited mutations in the TMEM126B gene and developed a test providing rapid diagnosis of related mitochondrial disorders. 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
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
Latest Molecular Diagnostics News
- First of Its Kind NGS Assay for Precise Detection of BCR::ABL1 Fusion Gene to Enable Personalized Leukemia Treatment
- Urine Test to Revolutionize Lyme Disease Testing
- Simple Blood Test Could Enable First Quantitative Assessments for Future Cerebrovascular Disease
- New Genetic Testing Procedure Combined With Ultrasound Detects High Cardiovascular Risk
- Blood Samples Enhance B-Cell Lymphoma Diagnostics and Prognosis
- Blood Test Predicts Knee Osteoarthritis Eight Years Before Signs Appears On X-Rays
- Blood Test Accurately Predicts Lung Cancer Risk and Reduces Need for Scans
- Unique Autoantibody Signature to Help Diagnose Multiple Sclerosis Years before Symptom Onset
- Blood Test Could Detect HPV-Associated Cancers 10 Years before Clinical Diagnosis
- Low-Cost Point-Of-Care Diagnostic to Expand Access to STI Testing
- 18-Gene Urine Test for Prostate Cancer to Help Avoid Unnecessary Biopsies
- Urine-Based Test Detects Head and Neck Cancer
- Blood-Based Test Detects and Monitors Aggressive Small Cell Lung Cancer
- Blood-Based Machine Learning Assay Noninvasively Detects Ovarian Cancer
- Simple PCR Assay Accurately Differentiates Between Small Cell Lung Cancer Subtypes
- Revolutionary T-Cell Analysis Approach Enables Cancer Early Detection