In case you missed our post last week and
in case you’ve been living under a rock for the past month, the ALS Ice Bucket
Challenge has reached a pinnacle of virility not seen since Rebecca Black gave
us a new way to usher in the weekend. However, unlike the meaningless funny
stuff that usually turns up on the internet, the Ice Bucket Challenge has done
an incredible amount of good. Apart from raising awareness of ALS (amyotrophic
lateral sclerosis), nominators and nominatees have donated over $100 million to ALS research
as of this writing. Compared to the $2.1 million raised in 2013, the past month
has been an icy flood of cash.
But what is ALS any why have we all so
enthusiastically decided that we need to drown it out? Most of us know that
baseball hall of famer Lou Gehrig suffered from the disease and eventually gave
his name to its colloquial identification. Some of us even know that
world-famous physicist Stephen Hawking lives with the disease to this day. But
what causes ALS? What does it do to a person’s body? And what can be done to
stop it?
ALS is a disease of the motor neurons.
There are two kinds of motor neurons: upper motor neurons (the ones in your
head) and lower motor neurons (the ones everywhere else in your body). ALS
starts off my damaging either the upper motor neurons, preventing them from
sending signals to the spinal cord, or the lower ones, preventing them from
taking messages from the spinal cord to the muscles. In the latter case,
muscles in one part of the body will become weak or clumsy. In the former case
a person will become more generally weak and uncoordinated.
The real problem with ALS is that it
spreads and intensifies, eventually leaving a person paralyzed and without
control of any of their voluntary muscles. Mercifully the disease tends not to
effect involuntary muscles like those in your bowel and it often spares the
muscles that control eye movement which is what allows Stephen Hawking to teach
the rest of us about black holes. He uses eye movements to type academic papers
and books in a monumental feat of patience. As ALS progresses it impacts
a person’s ability to swallow and breath normally, often leading to death by
choking.
Scientists aren’t sure what causes ALS
generally, but they are aware of a type that runs in families. Research has shown
that a mutation in the SOD1 gene is present in 20% of people with familial ALS.
SOD1 directs the body to produce an enzyme that protects motor neurons from
harmful unstable molecules called free radicals. The mutation removes this protection and causes neurons to break down. If a person has a parent with this gene
mutation, there is a 50% chance they will develop ALS. Thankfully, the sporadic (non-familial) form of the disease is far less common. On average only 2 in every 100,000 is
struck with ALS, usually between age 40 and 60.
As you have probably figured out by the
existence of the Ice Bucket Challenge, ALS has no cure… yet. While modern
treatments and technologies can help prolong patients’ lives by a few months to
a few years, most people with ALS pass away within 3 to 5 years of being
diagnosed. The notable exception is Stephen Hawking. Through a combination of
medical intervention, help from computers, and sheer force of will Dr. Hawking
has lived with ALS for over 45 years.
Modern research is focused developing gene therapies to treat mutations that can cause ALS or aims to develop chemical
therapies that increase the production of antioxidants and neurotrophic factors
in the body to help build and protect muscles cells. Stem cell treatments are
also showing some promise. In 2008 researchers were able to take stem cells
from the skin of 2 people with the harmful mutation to their SOD1 genes and raise them to produce healthy motor neurons.
One day researchers hope to be able to grow
enough motor neurons to transplant them into patients and reverse the disease's
progression. The best current treatments can do is slow down the spread of ALS through the body. In rare cases ALS can burn itself out, reaching a
certain point and just stopping. Scientists don’t understand why this happens
but research on people for whom this is the case may also help develop
treatments.
In order to do the research needed to
better understand ALS and develop treatments, scientists need money. They get
that money from organizations like the ALS Association, who rely on donations
from the general public. So next time you see a video of one of your friends
dousing themselves in water, throw them a like. And if you are nominated to do
the challenge yourself, do it and make a donation. A little discomfort for you
could mean a whole lot less for someone else.
