New ALS gene represents another small step

It wouldn’t be the Symposium without a new gene discovery.

Although technology has allowed incredible advances in the gene-hunting field, this is countered by the fact that as more and more familial amyotrophic lateral sclerosis (FALS) genes are found, it makes the search for the remaining unknown genes harder  This is in part due to the fact that the undiscovered genes are likely to be increasingly rare (so even more rigorous detective work is needed) but the challenge is compounded by the fact that there are fewer and fewer samples with an unknown cause available each time a new gene is found.

The solution to these problems lies with greater collaboration, sharing knowledge, expertise and of course the vital samples needed for the research to happen.Dr Brad Smith

Dr Brad Smith (King’s College London) unveiled the latest collaborative effort, involving over 50 researchers across 9 countries. The researchers took an approach called Exome Sequencing, which analyses the 1% of the genetic code where most mutations are likely to be found, to look for genes in several hundred FALS cases where the genetic cause was still unknown. They then compared their findings with those from 60,000 individuals in publicly available databases.Read More »

The power of a blot!

During December and November the Research Development team receive a number of Christmas presents from our funded researchers. These presents come in the form of ‘annual reports’ and, although they may not be wrapped in Christmas paper, once you open them you’re sure to find a nice research surprise!

20141020_MND Kings College_221

One of our PhD students, Ambra Annibali, under the leadership of Prof Chris Miller at King’s College London, shared with us a lovely gel image in their report. The ‘gel image’ in this case is what researchers call a Western Blot.

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On the second day of Christmas MND research gave to me: Two new inherited MND genes

Boxing day is here, there’s still some leftover turkey but let’s not forget… it’s the second day of Christmas!

“On the second day of Christmas MND research gives to you… TWO new inherited MND genes”

dna2014 saw the discovery of two inherited MND genes, the first being MATR3 in March and the second being TUBA4A in October. We will be discussing TUBA4A in a later blog post, but for now, here’s what we know about MATR3:

The MATR3 inherited MND gene discovery has provided us with further evidence that abnormal RNA processing is involved in MND.

The MATR3 protein, which is produced from the MATR3 gene, is commonly found in the nucleus or ‘control centre’ of the cell and is involved in the processing of RNA (the cell’s copy of DNA that is responsible for making new proteins). RNA processing has been previously associated with other inherited MND gene mutations (eg TARDBP and FUS). The MATR3 mutation also affects this process, adding more evidence to the role of abnormal RNA processing in MND.

Click here to read more about MATR3 here

New inherited MND-causing gene identified – TUBA4A

An international team of researchers, led by MND Association-funded researchers based at King’s College London, have identified mistakes in the TUBA4A gene as a new cause of the rare inherited form of MND.

This new MND-causing gene causes the cell’s structure, or skeleton, to break down – resulting in the cell being unable to transport molecules from one end of the cell to the other.

TUBA4A falls off the track

The TUBA4A gene is responsible for the Tubulin, alpha 4A protein and the researchers have found that the genetic mistake in the TUBA4A gene causes the microtubule network to breakdown in MND.

The microtubule network is a bit like a railway system. Normally, the healthy TUBA4A protein acts like a train, allowing the cell to transport molecules along this railway track to where they’re needed. As well as transporting molecules around the cell, the microtubule also acts as a skeleton within it (known as the ‘cytoskeleton’).Read More »

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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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 More »

Genetic testing – guidelines needed suggest researchers

The 24th International Symposium on ALS/MND began in Milan today with a record number of over 950 delegates attending to hear the latest news in MND research.

Inherited MND is a rare form of MND characterised by a family history of the disease. Over recent years more and more genes have been discovered, which has lead to an increase in individuals wishing to pursue genetic testing.

Read more about inherited MND on our website

A genetic test consists of a sample, which is then sent off to a genetic laboratory. Here the blood sample is then screened for the MND-causing genes.

The gene that is faulty in inherited MND can differ between one affected family and another. Mistakes in genes called SOD1, TARD-BP, FUS and C9ORF72 between them account for about 65 – 70% of cases of inherited MND. Scientists have yet to identify the gene defects that cause the remaining 30%.

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