Author Archives: Chris Comish

Courtagen Life Sciences, Inc., released several new Next Generation Sequencing tests designed to evaluate people with epilepsy and mitochondrial disease. Mitochondrial diseases are inherited or chronic illness. They can occur either at birth or may develop later, and include problems with development and cognition. They may cause poor growth, lack of coordination, weakness, pain and seizures.

A collaborative team of German and Italian researchers from the Institute of Human Genetics (Neuherberg) and the Istituto di Ricovero e Cura a Carettere Scientifico (Milan) identified mutations in the COQ4 gene that are responsible for the early-onset of mitochondrial diseases. The study entitled “COQ4 Mutations Cause…

Mitochondria consist of small structures having evolved from bacteria engulfed by cells. This bacterial origin explains why mitochondria has its own genetic material (mitochondrial DNA, mtDNA) distinct from the nuclear DNA (nDNA). Most mitochondrial genes were transferred to the nucleus over time, but mtDNA still codes for 13 different proteins. Though…

Researchers studied the prenatal diagnostic services provided in the UK for mitochondrial diseases since 2007. The study entitled “A national perspective on prenatal testing for mitochondrial disease” was published on 19 March, 2014 in the European Journal of Human Genetics. Mitochondrial diseases, including mitochondrial…

A collaboration between researchers from Leeds’ St. James’s University Hospital, University College London (UCL) and the Institute of Child Health (UCL) identified a gene mutation affecting mitochondrial calcium (Ca2+) levels in individuals with muscular disease (myopathy), learning and movement deficits. The study included data collected by the UK10K Consortium and is…