Toxic proteins may cause motor neurones to die in C9orf72 MND

MND Association and Alzheimer’s Research UK-funded researchers from University College London have identified that toxic proteins may cause motor neurones to die in C9orf72 MND and frontotemporal dementia. Published open access in the journal Science on Thursday 7 August, this research explains more about one of the most common forms of inherited MND.

The brain of a transgenic fruit fly Drosophila melanogaster, used to study neurodegenerative diseases, with cell nuclei (stained purple) and glial cells (green). Image courtesy of Teresa Niccoli, UCL Institute of Ageing, London, UK.

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From genes to the clinic: MND Association and ALS Association-funded researcher wins the ENCALS Young Investigator Award 2014

After attending the ENCALS meeting in May I was busy scheduling the ‘blog a day’ in June, which meant I didn’t get chance to actually report on any developments from the meeting. During our ‘blog a day’ we wrote a lot about genetics, in terms of the UK MND Whole Genome Sequencing project and the UK MND DNA bank. Therefore, I thought it would be a good opportunity to introduce a different area of genetic research and how it relates to what’s going on in the clinic.

The Award

During the European Network for a Cure of ALS (ENCALS) 2014 meeting (Leuven, Belgium 22 – 24 May 2014), Dr Ashley Jones, was awarded the Young Investigator Award.

It’s a highlight of the annual meeting, which showcases and recognises the work of the next generation of researchers in the field of MND, in this case, King’s College London-based Ashley.

But how does it feel to win such a prestigious award? Ashley said:

“Ammar phoned late Sunday evening, in a grave tone, and asked me if I was sitting down. I sat down, and began to worry. When he told me the news, I became inarticulate. I think there was some joyous laughter, and then I repeatedly asked him ‘really!?’”.

Prof Dame Pam Shaw presenting Dr Ashley Jones with the 2014 ENCALS Young Investigator Award

Prof Dame Pam Shaw presenting Dr Ashley Jones with the 2014 ENCALS Young Investigator Award

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Sheffield work towards a treatment for SOD1 form of MND

A number of articles were published in various news sources on 11 July 2014, highlighting how scientists in Sheffield are working towards testing a promising treatment for a rare inherited form of MND caused by the SOD1 gene. Here we write about the research and what it means for people living with MND.

The Sheffield Institute for Translational Neuroscience (SITraN) specialises in research into MND and other neurodegenerative diseases. Recently the institute received an anonymous donation of £2.2 million to help translate their research from the lab to the clinic. This is a huge amount of money into MND research and this donation will enable the researchers to further our understanding of the disease.

Laboratory PhotoThe research

We know that approximately 10% of cases of MND are inherited. This means that they are characterised by a strong family history and the disease is caused directly by a mistake in a specific gene. Of these 10% of cases, 2% are caused by the SOD1 gene (meaning that for every 100 cases of MND, 10 cases are inherited and of these, only 2 are directly caused by the faulty SOD1 gene).

Prof Mimoun Azzouz’s research at SITraN was reported in a number of news outlets, highlighting how his research is paving the way to a treatment for a rare form of MND. His research is at a relatively early stage, where he has only just begun investigating the use of a technique known as ‘gene therapy’ in mice affected by the SOD1 inherited form of MND. If the research goes to plan, he will be able to submit a proposal for regulatory approval by August 2015. Read the rest of this entry »

Project-MinE

Barbara Thuss is project co-ordinator for Project MinE, an international initiative with the aim of sequencing at least 15,000 MND genomes. We announced earlier today that the MND Association is funding the UK-arm of this initiative, known as the Whole Genome Sequencing project. Here Barbara explains more about Project-MinE.

Although the precise cause of MND is still unknown, in recent years it has become increasingly clear that this devastating and fatal disease of the motor neurons has a genetic basis. Project-MinE is an ambitious international research initiative aimed at detecting genetic causes and risk factors for MND. The project has been initiated by two people living with MND, along with the ALS research group in the Netherlands.

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The UK Whole Genome Sequencing project

Dr Samantha Price is the Research Information Co-ordinator at the MND Association. As well as organising the ‘blog a day’ during MND Awareness Month she also communicates the latest news about MND research. Here she blogs about the MND Association’s announcement of the UK Whole Genome Sequencing project.

It’s been a brilliant Awareness Month with blogs about zebrafish research and streaking meerkats. To end on a positive research note, we’re delighted to announce that we are funding a UK Whole Genome Sequencing project to help us understand more about the causes of MND. Utilising samples from our own UK MND DNA bank; researchers in the UK will aim to sequence 1,500 genomes to help identify more of the genetic factors involved in the disease.  Read the rest of this entry »

Another piece in the MND Jigsaw..

TDP-43Research published yesterday on 3 June 2014 in the prestigious journal Nature Communications, highlights key insights into how the protein TDP-43 may cause motor neurones to die in MND. Association-funded researcher Prof Chris Miller based at the Institute of Psychiatry at King’s College London, was involved in the research.

In the majority of cases of MND the protein TDP-43 is found to form pathological clumps within the motor neurones. The build up of this protein is thought to cause the motor neurones to die in MND, however researchers are yet to identify how this happens.

Association-funded researcher Prof Chris Miller has identified that the protein TDP-43 causes the connection between two cellular compartments within the cell to loosen. The breakdown of this connection means that the mitochondria (the cell’s battery) and the endoplasmic reticulum (where proteins are made and recycled) can no longer communicate and work together.

By identifying this target within the cell, the search is now on to find drugs to restore the strength of this link. Read more about this news story on our website.

Only four days in and it seems that MND Awareness month is going to be anything but quiet.

Tirasemtiv Phase II clinical trial – results

The top-line results from the Cytokinetics Inc Phase IIb clinical trial of Tirasemtiv were announced last week. Following this announcement, detailed results were then presented on 29 April 2014 at the Annual Academy of Neurology (AAN) meeting.

Unfortunately, although the drug was found to be safe, the results concluded that Tirasemtiv did not meet its primary objective, showing no difference in disease progression, as measured by the ALS Functional Rating Scale (ALSFRS) compared to placebo matched controls. Cytokinetics Inc have stated that further study of Tirasemtiv is needed.

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