Improving the diagnosis of mitochondrial disease
In this project Dr Shamima Rahman at the University College London Institute of Child Health aims to identify new genetic changes causing mitochondrial diseases. This will provide a more accurate diagnosis for people with these conditions, helping clinicians provide better information about how the disease will progress as well as being able to give better family planning advice.
Contents:
- What are the researchers aiming to do?
- How will the outcomes of the research benefit patients?
- Grant information
- Further information and links
What are the researchers aiming to do?
Currently up to 80 percent of patients with mitochondrial disease do not receive a specific genetic diagnosis. The lack of a genetic diagnosis leads to great uncertainty about how the disease will progress and whether it might be passed on to future generations. Most importantly, lack of understanding of the precise causes is inhibiting the development of new and effective therapies for these currently incurable diseases.
Mitochondrial diseases are caused by the energy producing structures in the cell - called mitochondria - not working efficiently. This can be caused by changes to the 37 genes that are contained within the mitochondria itself or changes to genes within the control centre of the cell - the nucleus. The majority of our 20,000 genes are contained within the nucleus.
It is thought that the undiagnosed cases of mitochondrial disease are likely to be caused by changes to genes in the nucleus that are involved in mitochondrial function. Dr Rahman will use cutting edge technology - called next generation sequencing - that reads DNA code to identify new genetic changes causing these conditions. They will examine the DNA from several individuals and families who are known to have mitochondrial myopathy but for whom the gene mutation is not yet known.
How will the outcomes of the research benefit patients?
This research should highlight new gene mutations that can cause mitochondrial diseases. The immediate benefit of this is the ability to provide more individuals and families with a precise genetic diagnosis. This leads to better family planning information as well as allowing clinicians to give more information on how the disease might progress so people can plan for the future and gain access to appropriate care.
The longer term benefit is in a greater understanding of the cause of the conditions. Knowing which genes and proteins are causing the disease, will reveal potential targets for the development of future therapies.
Grant information
Project leader: Dr Shamima Rahman
Location: University College London Institute of Child Health
Conditions: Mitochondrial myopathies
Duration: 3 years
Total project cost: £149,744
Official title: Identification of nuclear gene defects underlying multiple mitochondrial respiratory chain defects using exomic sequencing
Further information and links
Find out more about mitochondrial myopathies
Read about more research we fund into mitochondrial diseases
Read an article in Target Research about next generation sequencing
It is only through your contributions that we can continue to fund the vital work that takes us closer to finding treatments and cures for muscle disease. Donate now and help change the lives of thousands of people living with muscle disease.
