RNA phenotyping in mitochondrial diseases

Study code

Lead researcher
Patrick Chinnery 

Study type
Participant re-contact

Institution or company
Cambridge University Hospitals NHS Foundation Trust

Researcher type

Speciality area
Genomics and Rare Diseases, Neurological Disorders


There is currently limited treatment for mitochondrial diseases. Our aim is to use the NIHR BioResource’s RNA sequencing pipeline and patient data to help us find disease mechanisms that could either be treated with drugs or used to monitor mitochondrial disease. We will study two groups of patients with suspected or confirmed mitochondrial disease, recruited to the NBR-148 study.

The first group of patients have suspected mitochondrial disease, this is because their diagnosis has not been confirmed because the genetic cause has not been identified. RNA-sequencing looks at what genes are ‘read’ and expressed in different cell types; this can give an accurate overview of what is happening within the cells. It is possible that RNA-sequencing could identify new disease genes which could lead to previously undiagnosed patients, being diagnosed. Confirming diagnoses also helps with future family genetic counselling.

The second group of patients, have a confirmed diagnosis of mitochondrial disease. RNA-sequencing will help researchers have a better understanding of how the disease behaves and could help identify new treatments. The patients were recalled from the Rare Inherited Neurological Diseases (IND) cohort at the Rare Diseases BioResource.

This study is part of our Rare Diseases RNA Phenotyping Project. Each participating study in the project is included in a collection hosted on our main studies page.