Genotype and Phenotype in Inherited Neurodegenerative Diseases

Study code

Lead researcher
Professor Patrick Chinnery

Study type
Participant re-contact

Institution or company
Cambridge University / Clinical Neurosciences, Addenbrooke's Hospital

Researcher type

Speciality area
Neurological Disorders, Infection

Recruitment Site


We will use your blood sample to study specific cells that are involved in the immune system, called white blood cells. We want to learn more about how these cells function at rest and how they function when they’re triggered by an immune stimulus. We are also interested to learn if these cells behave differently in people with inherited neurological disorders compared to people who do not have these disorders. We have already collected samples from a group of patients with a condition called ‘mitochondrial disease’, and we will use your sample as a comparison.

Patients with mitochondrial disease often get very sick when exposed to seemingly minor bacterial or viral infections, suggesting that their immune systems are compromised in some way. By studying the white blood cells of these patients and comparing them to those of healthy volunteers, we will hopefully identify a difference that will help us understand the immune system defects involved.

Participation: For this study we recruited 11 volunteers from the Cambridge BioResource to give a 23ml blood sample. Study visits were run by the Cambridge BioResource team.

Organisation: This study is organised by Professor Patrick Chinnery from the University of Cambridge. 

Update from study team:

Mitochondrial disorders are genetic diseases which affect 1 in 5000 people in the UK.  The symptoms range from fatal disorders in children involving lots of organs in the body, to disorders in adults which affect just one organ, such as problems with eyesight, hearing problems or diabetes. There is currently no cure for mitochondrial disease. 

Mitochondria make the energy our cells need to work properly. They have their own DNA called mitochondrial DNA (mtDNA). 

This was a small pilot study to see if there are differences in the immune cells (white blood cells) of mitochondrial patients compared to healthy volunteers. We collected blood samples from 11 patients with mitochondrial disease and compared them with blood samples from 11 age and sex matched healthy volunteers. 

Due to the small sample numbers it was hard to see any major differences between the two groups.  However, we think there is a lot of promise in studying the immune responses of mitochondrial disease patients and healthy controls.  
The team plans to take a subset of immune cells (called T-cells) and place stress on them, so that we can see if genes are switched on and off differently in these cells in mitochondrial disease patients compared to healthy controls. We hope this will show key differences between patients and controls, which may help us to understand the genes or pathways linked with mitochondrial disease.  
Due to Covid-19 we have not been able to try this yet, but we are still working on the project and we hope to recruit more patients and controls in the future.