Molecular mechanisms of Neuroferritinopathy

Study code

Lead researcher
Patrick Chinnery

Study type
Participant re-contact

Institution or company
Cambridge University Hospitals NHS Foundation Trust

Researcher type

Speciality area
Neurological Disorders, Genomics and Rare Diseases


Neuroferritinopathy is an ultra-rare neurodegenerative disorder caused by mutations (faults) in a gene which codes for a protein called the ferritin light chain. Affected people have a build-up of iron in the brain. The build-up of iron eventually leads to the death of brain cells (called neurons and glia) and brain regions that help control movement are particularly affected. It is not clear how the excess iron is toxic to cells, and there is currently no treatment.

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 including the brain. Our aim is to use RNA sequencing to look at effect of the build-up of excess iron in cells, recalling patients from the Rare Inherited Neurological Diseases (IND) cohort at the Rare Diseases BioResource. RNA-sequencing will help researchers have a better understanding of how the disease behaves and could help identify new treatments.

The build-up of iron in neuroferritinopathy resembles normal brain iron build-up seen in healthy ageing, which also happens faster in common neurodegenerative disorders such as Parkinson’s disease. Our findings are therefore likely to have broader implications for common brain diseases linked to excess iron accumulation.

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.