No Silver Bullet in the Treatment of Autism

When I was a sophomore in college, I spent my summer as a paraprofessional for twin seven-year-old boys with Autism Spectrum Disorder (ASD). They lacked the ability to use verbal language, and the little communication they did have was in the form of sign language for “bathroom” and “hungry.”

I worked day after day to gain their trust, looking forward to an unrealized moment when they might look me in the eye and smile or say goodbye at the end of the day. Whether or not my twin friends have forgotten me, I will never know, but I will certainly never forget them.

Ever since that summer, I’ve had a deep-seated desire to understand the cause of Autism—to the point that I did my doctoral research in basic neural development. While my work at the bench eventually transitioned into a new career path, my personal drive to understand the foundation of autistic behaviors never faded.

For years, the causes of ASD were shrouded in mystery. During an unfortunate scientific scandal, one man instigated a dangerous camp of people who promulgated the theory that childhood vaccinations are at the core of Autism, an idea that has over and over again been dismissed by the scientific community.

Vaccinations clearly do not cause ASD, so what does?

A large number of twin studies have shown that ASD has a genetic basis. If one child from a set of identical twins has ASD, the other twin is very likely to have it as well. While the fact that genetics has a lot to do with whether or not a child will have ASD, it has been notoriously difficult to pinpoint which gene, or set of genes, accounts for any significant portion of ASD cases.

There is a reason for this; according to three new publications in this month’s issue of Neuron, a large percentage of ASD cases are relatively unique in their origin. The researchers found that specific mutations in any of 130-230 places in our DNA can lead to Autistic behaviors.

The mutations, called copy number variants (CNVs), are seen as large chunks of missing DNA or strands of DNA that have been repeated too many times. For example, if each letter of the ABCs represents a piece of our DNA, it would be like having ABCEFG... or ABCDDDDDEFG...

While the genes affected by these CNVs are numerous, one of the three groups found that many of the genes control activities at the synapse (the place where one neuron passes a signal to the next neuron). This implies that disruption of common biological functions controlled by a number of different genes is responsible for a portion of ASD cases.

An important take-away point from these studies is that ASD does not have one cause, and therefore it does not have one cure. It’s important to understand that there will never be a universal treatment for ASD. Instead, doctors may be able to use new sequencing technologies to determine genetic abnormalities in individual ASD patients, allowing tailored treatment options depending on the unique genetic background.

The Bottom Line: Mutations along many places in our DNA can cause Autism Spectrum Disorder, which suggests that future treatments will need to be tailored to an individual’s unique case.

References:
Sanders et al. (2011). “Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism.” Neuron, 70(5): 863-885.

Levy et al. (2011). “Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders.” Neuron, 70(5): 886-897.

Gilman et al. (2011). “Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses.” Neuron, 70(5): 898-907.

Worm Astronauts

I'm in a playful mood, and I've been into limericks lately, so here's one about a recent press release from the University of Nottingham:

There once was a small little worm
Called C. elegans, he wriggles and squirms
Shot into space
For the human race
To find ways to keep space muscles firm

Researchers from the University of Nottingham are using microscopic roundworms, called C. elegans (a very common model system used in MANY biology labs around the world), to test out techniques that might be able to prevent or reduce muscle degeneration in astronauts during spaceflight. C. elegans are ideal to send into space due to their small size (around 1mm), well established development, and simple techniques for genetic manipulation.

The full press release can be found here: http://www.nottingham.ac.uk/news/pressreleases/2011/june/wormsinsapce.aspx

The world's first "lifestyle science" magazine

Gotta love this! So I was farting around on twitter and happened to see the famous @BoraZ post a link to a new online science magazine. Low and behold, a few science nuts decided it was time for a magazine about science that the general public would love. It has entertainment, humor, top medical myths...it's a hoot!

The description from their website:
" Guru is a brand new type of magazine – it offers you engaging articles on current affairs, news and features from a scientific slant.

Guru lets you explore the things that really matter to you: life, love, media, technology, psychology, food and stuff. It will keep you informed and entertained about what you do with your time, your life and your money.

Guru is a world first – a ‘lifestyle science’ magazine – offering you compelling content but without the ‘geek’ factor you get in a regular science publication. It’s authoritative and everything is presented in a light-hearted and fun style. More like a lifestyle magazine really…"

Seriously, it's worth checking out: http://gurumagazine.org/

Politicizing Science: A Lesson from Shrimp on Treadmills

OK, I’ve procrastinated long enough getting this blog up and going again. Before I jump back into writing about the goings-on in bioscience research, I want to spend a few minutes writing about a very disturbing issue that I recently encountered.

A good friend of mine was over for dinner a few nights ago, and during our normal discourse of politics, religion—you know, all those things you’re not supposed to talk about—he asked if I’d heard about the $500,000 of NSF funding going toward making shrimp run on treadmills. Given that I have a five-month-old baby at home and don’t have time to shower let alone check up on the list of NSF funding recipients, I hadn’t.

Now, when someone tells a scientist who spent most of her scientific career dissecting the brains out of fruit flies or running experiments on inch-long Zebrafish, it comes at no surprise to me that a lab might want to use shrimp as a model system to test a hypothesis that would be very difficult to explore in a human or other mammalian species.

So, I reminded my friend that one of the latest Nobel prizes in Physiology or Medicine was awarded to a scientist who essentially studied pond scum (Google Elizabeth Blackburn if you’re interested) and to take any hyped news about shrimp on treadmills with a grain of salt. For what it’s worth, I explained to him, the NSF has a very competitive application process to receive funding.

The next day, out of curiosity, I decided to Google this “shrimp on treadmill” business, and oh what fun I had! If you ever want to get your blood boiling on a Saturday morning, start reading the statements of Senator Tom Coburn, who believes that any money spent on making crustacean exercise equipment could not possibly end in something useful to society (again, let me remind you that even the most groundbreaking discoveries can start with pond scum). BUT the thing that most irked me was the slanted take on the story by some of the news media, regurgitating Coburn’s arguments without any investigation into the actual research being conducted using shrimp on treadmills.

Well Senator, you’re wrong. And here’s why:

Dr. David Scholnick at the Pacific University Oregon states on his lab’s website that his shrimp treadmills are part of a large study “to better understanding how pathogens can impact respiration and thereby disrupt metabolic pathways during activity.” These types of studies can lead to a better understanding of the health parameters of our marine life as well as provide a direction for future studies about the effects of infection in humans.

There is a danger that resides in the act of politicizing science—stripping science down to a current day dollar value. Let’s not forget that most, if not all, modern day technology was once a box of scattered wires or a petri dish of bacteria. The benefits (both socially and monetarily) that can arise from basic science research, whether the experiments are run on shrimp, flies, or mice, are unpredictable.

Of course it is important for tax dollars to be put to a good use, but how can a society responsibly vote for representatives who will make good financial decisions if society is misinformed and mislead? Sure, out of context it might sounds silly to study shrimp on treadmills, but in context, shrimp are a small, cheap, and efficient model system to study a number of biological processes. When our politicians, and especially our media, take sensationalized views on science, focusing on very small aspects of large studies, it is a disservice to our society.

The bottom line - If basic science continues to get politicized as it is, we, as a nation, run the risk of losing support for our most basic, and sometimes most groundbreaking, aspect of science: The ability for a bright mind to follow a creative line of questioning, leading to informative and often surprising results.