Stiff man syndrome

Stiff man syndrome is a rare disease of the CNS characterized by fluctuating rigidity and muscle spasms. Patients get the rigidity when they get simultaneous contraction of agonist and antagonist muscles- when this happens, they become stiff and can actually topple over like a wooden man. Patients get painful muscle spasms that are precipitated by noise, voluntary movement, and even fear! Stiff man syndrome is thought to be an autoimmune disease for a number of different reasons: (1) there's a genetic association between the incidence of disease and the HLA complex, (2) patients develop antibodies against neurons that secrete the inhibitory neurotransmitter GABA. These antibodies are typically against GAD, which is the enzyme that makes GABA. Intriguingly enough, 10% of stiff man syndrome patients have epilepsy, which is higher than normal. A loss of GABA signaling has been shown in epilepsy, providing further evidence that in stiff man syndrome, there's a directed attack on GABAergic neurons.

So if you have stiff man syndrome, what's the treatment? Well, typically patients are given diazepam, which potentiates the effect of endogenously released GABA on GABA receptors. If patients don't respond to diazepam, then often other GABA affecting drugs are given.

Cool, huh?

Phosphorylation?

So, is phosphorylation (the act of putting a phosphate group on a protein, conducted by kinases) all that? Lots of people get excited over phosphorylation events... and there are even Serine kinases (kinases that only put a phosphate group onto serine residues), Tyrosine kinases (only onto tyrosines), and Threonine kinases (you get the idea). Sure, putting that big bulky negative charge onto a protein can change its conformation, its binding to other proteins, and thus can influence its signaling. But, I think it gets hyped up. That's my humble Friday morning opinion.

Why are naked-mole rats amazing? Couple reasons, none of which are going to contain the fact that I have a larger-than-life ceramic statue of a naked mole-rat in my living room. That's a story for another day. First off, naked mole-rats have a super cool social structure. There's one queen female that is the sole mater of the group, with only 1-2 males. This "eusocial" system is typical of termites, but highly atypical of mammals. This means the the rest of the colony has to work, get food, dig tunnels, fight off snakes- all without any direct reproductive success. Why do they do it? Naked mole-rats are highly inbred, so if they help out their brother or sister reproduce, it indirectly increases their own reproductive success- playing into Hamilton's rule of relatedness "rb-c must be greater than zero" for family members to want to help out (r= degree of relatedness, b= reproductive benefit of helping, c= reproductive cost of helping). Naked mole-rats are also super cool because they are the only known poikiothermic mammals, meaning that they aren't able to regulate their own body temperature. This means that whatever the ambient (environmental) temperature is- that's the body temperature of the naked mole-rat. That could be bad- but where they live makes it not really matter. They live in Sub-Sahara Africa, in little tunnels under the ground where temperature doesn't change all that much. When they do need to increase or decrease their body temperature- they merely change their position in the tunnel or cuddle up next to another naked mole-rat. Problem solved.

In conclusion, naked mole-rats are cool. Well, if they get put in a cold environment... :)

So, I enter the world of bloggers. Since I am in the pursuit of the highly sought after PhD in the specialized area of neuroimmunology, sometimes my wandering curiosities in the broad spectrum of science get ignored. This will therefore be remedied by this blog. Fun, random science facts. Things that I should know, but have had to refresh my memory on. A bit of science history, or gossip. So, without further adieu...