Largest genetic study confirms importance of chromosome 9 in MND
Today, 31 August, sees the publication of the first research paper using samples from the MND Association’s DNA bank, which is supported by NIHR DeNDRoN.
Motor neurone disease (MND) researchers working in collaboration across Europe and the US have confirmed that a region of DNA within chromosome 9 plays an important role in both sporadic and familial MND; and a form of dementia called fronto-temporal dementia (FTD).
The research study, the results of which were published in Lancet Neurology on 31 August 2010, was led by Prof Ammar Al-Chalabi at King’s College London (1). The researchers scanned 599 DNA samples from the MND Association’s DNA Bank. These samples were donated by people with the sporadic form of MND. In addition, 4,144 samples from people unaffected by MND (control samples) from other DNA banks were analysed. The researchers then verified these results using a total of 4,312 samples from sporadic MND patients and 8,425 control samples. Samples collectively came from the UK, Netherlands, Belgium, Ireland, Sweden, Italy, France and the USA.
This study reflects the huge commitment and willingness of the worldwide MND research community to share research information – representing the genetic information of more than 12,000 people. Combining the efforts of international MND research teams has allowed the largest genetic study of MND to have taken place.
Prof Al-Chalabi explains: “We already know that a DNA region in chromosome 9 is involved in some people with familial MND but our work has confirmed that this chromosome actually plays a role in sporadic MND. In fact, our study has narrowed the DNA region to one that contains just three genes. Finding which gene in this DNA region causes MND and why, will unlock another piece of the MND puzzle and may allow us to understand enough about the disease so that we can design a specific treatment.”
Dr Brian Dickie, director of research development at the MND Association, adds: “Chromosome 9 has been a suspect for MND genetics detectives for a long time. But pinning down the precise genetic factor involved has proved elusive! It’s exciting that we are making significant progress in understanding this part of the overall MND jigsaw puzzle.”
NIHR DeNDRoN has be instrumental in supporting increasing numbers of NHS sites become research active in MND (2), which has over time helped to sustain recruitment levels to the MND Association’s DNA Bank and increased access to research for patients and clinicians.
Professor Pamela Shaw, national lead for MND at NIHR DeNDRoN, explains: “Typically the profile of recruitment to the DNA Bank at each site is for high levels initially, slowing down once the majority of prevalent cases have been recruited. With the support of DeNDRoN increasing numbers of NHS sites have become involved in the study, which has maintained recruitment levels across the country.”
Notes
- More information about this research can be found on the 'news in research' pages of the MND Association website.
- Hollinger et al (2009) DeNDRoN: supporting new sites to become active in Motor Neurone Disease research National Institute for Research Clinical Research Network Conference 2010. Click here to view poster
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