ANXA11 – another gene closer to understanding ALS

A new research paper has been published today in the Science Translational Medicine journal, describing a new gene implicated in developing MND. What is this gene and why is it important for our fight against MND?

Although they are not the sole cause of MND, genes play a big role in someone’s probability of developing the disease. A number of such genes that make a person susceptible to developing MND have already been identified, with most of them causing the rarer, inherited form of the disease.

A new addition to a list of genes that are related to development of ALS, the most common form of MND, has been discovered by researchers from King’s College London. Dr Bradley Smith and colleagues screened genetic data of an unusually high number of people of European origin: 751 with inherited – familial – ALS (fALS) and 180 with non-inherited – sporadic – ALS (sALS). Detailed analysis of this data found that specific mutations in the ANXA11 gene are associated with around 1% of all fALS and 1.7% of all sALS cases. Continue reading

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. Continue reading

On the twelfth day of Christmas MND research gave to me: twelve – a low number of authors on a research paper

The final day of our ‘twelve days of Christmas’ blogs has arrived. We hope you’ve enjoyed our festive overview of 2014 and we look forward to sharing many more research updates throughout 2015!

 “On the twelfth day of Christmas MND research gives to you… TWELVE – a relatively small number of authors for an MND research paper, the TUBA4A paper had 68!”

Dr Bradley Smith, King's College London

Dr Bradley Smith, King’s College London

Gone are the days where there are only three authors on a research paper, especially in genetics! Gene hunting requires a lot of researchers to process and understand a whole lot of data. For instance, the information contained from one human genome is 100Gb of data, that’s equivalent to 102,400 photos!

Now… Project MinE is sequencing at least 15,000 MND genomes! When this research is completed, and the work gets published, it’s going to be a very long list of authors!

Click here to read more about the inherited MND gene, TUBA4A, which was identified in 2014 by 68 MND researchers!

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’). Continue reading