What’s been going on?

It’s been a while since I’ve been able to blog.  I have lots of reasons, but one of the big ones is that I’ve been writing and editing for some other sites!

In mid-January, I wrote an article for the ISBER News Blog (ISBER stands for the International Society for Biological and Environmental Repositories – the premiere biobanking society in the world). The article entitled “Have you joined the ISBER social network? Facebook!” is all about how to get started on Facebook and how to get more involved with ISBER through that social media outlet.  If you aren’t on Facebook already, you may find the first half of the article useful.  Once you join, you can follow the “Things I Tell My Mom” Facebook page where I post often about interesting science I find around the web.

From this experience, I was named the new Assistant Editor for the ISBER News Blog. This was announced in a very funny article from the current editor Rick Michels called “Bringing in Backup.” I’m super excited about this new role and have jumped right in to help edit lots of interesting articles from the biobanking world.  I hope many of them will be interesting to the public, and I’ll be sure to share them either through this blog or on my Facebook page.

As part of my job, I endeavor to educate the public on the importance of biobanking in enabling cancer research. To both work towards this goal as well as to talk about the Biobank’s support of World Cancer Day, I wrote an article for the Barrow Neurological Institute blog about what our Biobank does to help cancer research. You can find that article here.

And because that’s not nearly enough, my first article for GotScience.org was published today. GotScience is a fabulous website with the goal of increasing the public awareness about science – a perfect fit for my goals and dreams! I adapted an article that I first published on this blog for GotScience about “What is a biobank?” (I think you can see a theme emerging). Please check it out along with the other articles on GotScience!

Finally, I’ve been helping out an editor friend of mine at PN Online – a magazine to help people who are wheelchair bound. I contributed to an article about this great new ALS research called “Early ALS Treatment.” I adapted my work for this article to a journal club blog post that you can read here.

I promise I’ll be back to writing on this blog soon, but until then, enjoy the articles I shared above!!

Journal Club – A mutation in mice to study ALS

Amyotrophic Lateral Sclerosis (ALS) is a debilitating neurodegenerative disease that affects neurons in the brain, brain stem, and spinal cord. When these neurons die, it affects the connections that they have to muscles throughout the body resulting in muscle weakness that affects speaking, swallowing and breathing leading to paralysis and eventual dead.  The cause of ALS isn’t known in 90-95% of cases.  However, recently scientists have identified a mutation in a gene nondescriptly called “chromosome 9 open reading frame 72,” which is abbreviated to C9ORF72.  This mutation results in six nucleotides, GGGGCC, being repeating up to 1000 times within this gene in ALS patients.  Even though this is the most common mutation found in ALS patients, it’s still unclear exactly how these repeats affect neurons or the progression of the disease. The two hypotheses that are most studied are that the mutated C9ORF72 makes mutated RNA transcripts (RNA is the molecule that usually helps DNA be translated into proteins) or makes unusual proteins called dipeptide repeat proteins (DRPs), each of which can aggregate (clump) together and disrupt the normal activity of the neurons leading to neurodegeneration.


The pink dots show clumped up RNA from the many many repeats in the C9ORF72 gene. Each panel shows these clumps in different areas of the mouse brain. Taken from the article Peters et al. 2015 Neuron

In two recent publications in the journal Neuron, researchers have used mice as a model system to look at how these large GGGGCC repeats in C9ORF72 affect the mouse nervous system.  Why use a mouse? First, scientists know how to experimentally change the mouse genome in order to add hundreds or thousands of repeats to a single gene, like C9ORF72.  Second, mouse and human genes are about 85% identical, so if scientists can understand how a gene like the mutated C9ORF72 affects neurons in mice, it may also help scientists understand how it works in humans. Third, by creating a mouse “model” of ALS, scientists can use this model to better understand ALS and to test potential future therapies (it’s worth noting that only one drug currently exists for ALS and it typically extends life only by a few months).

In each article, the mouse model was slightly different – one had a mutated C9ORF72 with 500 GGGGCC repeats and the other varied between 100-1000 repeats. However, both sets of researchers found the same results.  The mice had aggregated RNA transcripts and DRPs in their neurons just like what are found in human patients with ALS, but none of the mice had behavioral changes or neurodegeneration that are seen in human ALS patients.  So why didn’t the clumped up RNA and proteins cause neurodegeneration in mice like they do in humans?  There are lots of potential reasons – including the fact that even though mice and humans are similar, there are still lots of differences and mice may respond to these aggregated RNA and proteins differently than humans.  However, the authors of these papers suggest that other environmental and/or genetic factors along with the aggregates caused by the C9ORF72 mutation must be involved in developing the neurodegeneration.  It may also mean that getting rid of these aggregates before neurodegeneration occurs may prevent development of ALS.  Now that these mice are available to study, they should help in identifying the other factors involved in ALS development along with developing possible treatments for this debilitating disease.

Want to read the articles?  Unfortunately, they are behind a paywall, but you can see the abstracts here:

O’Rourke et al. (2015) C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD. Neuron. Volume 88, Issue 5, p892–901, 2 December 2015 Article

Peters et al. (2015) Human C9OFR72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice. Neuron. Volume 88, Issue 5, p902–909, 2 December 2015 Article

Read the Article from PN News that I contributed to here