Revision bite: Was Noah an albino?

Today’s poison: Medical Genetics- Inborn errors of metabolism to be exact.

Albinism is a defect whereby little or no melanin production results in little or no pigment in the skin, hair and eyes.

Was Noah an albino? I guess we’ll never know! (Noah, 2014)

When doing a quick google of albinism, I found an article by the BBC, which proposed that Noah might have been an albino.

The film Noah is out now in UK cinemas, and Noah is played by Russel Crowe. It’s thought that Noah might have had variant OCA 1 (Occularcutaneous Albinism). OCA 1 is caused by a mutation in the tyrosine gene which converts tyrosine to DOPA (duhydroxy-phenylalanine). DOPA’s then converted to Dopaquinone and finally to melanin.

OCA1 is divided into two main types of mutations; OCA 1A where tyrosine’s absent and there’s no melatonin in skin or eyes, or OCA 1B whereby tyrosinase is greatly diminished but not totally absent, which causes there to be an increase in skin, hair and eye pigment with age, these patients do tan with sun exposure.

The Old Testament portrays Noah, who was ordered by God to build an ark, as having a long white beard. Some people have stated that text from the Dead Sea Scrolls elaborates further. The Dead Sea Scrolls were discovered between 1946 and 1956 in a cave east of Jerusalem, and are thought to contain the earliest manuscripts of portions of the Hebrew Bible.

Within these scrolls, Noah is described as a child having “the flesh of whish was white as snow, as red as arose; the hair whose head was white like wool, and long; and whose eyes were beautiful2.

The scroll translation originates from an article written by Professor Arnold Sorsby in the British Medical Journal in 1958. Prof Sorsby is an ophthalmologic research professor, and in this article he attempted to find trace back Noah’s family tree to discover the genetic flaw that possibly caused the albinism mutation.

Many people however are thought to believe that the scroll refers to Noah’s angelic-ness rather than albinism.

 

Whether Noah was or was not an albino, there are mixed reviews on this film. It’s safe to say I won’t be flocking to see it!

For more information about albinism, visit www.albinism.org

References:

Aronofsky, D., 2014. Noah.

Carden, S.M., Boissy, R.E., Schoettker, P.J., Good, W.V., 1998a. Albinism: modern molecular diagnosis. Br. J. Ophthalmol. 82, 189–195. doi:10.1136/bjo.82.2.189

Sorsby, A., 1958a. Noah–an Albino. Br. Med. J. 2, 1587–1589.

 

Revision bite of the day: Snorting cocaine increases your stroke risk by 700%- Is it really worth it?

During revision for my exams it’s clear to see what areas of Biology I’m interested in- as these are the ones I eagerly revise first.

This year top of my list are; Cardiovascular Disease and Mammalian Reproduction- lectured by David Leake and the amazing Phil Knight at University of Reading. I think it’s safe to say I’m not alone in thinking that most students find these areas fascinating.

I also enjoy Conservation and Biodiversity, as my inner eco-warrier pushes out to grapple all sorts of hot conservation topics.

Today, when I sat down to revise the depressing topic of Strokes as part of the Cardiovascular Disease module, I didn’t think this topic would captivate me as much as it has.

At University, it seems that quite a few people are dabbling in a few pills and powders,without a second thought for their health.

When researching strokes it came quite apparent that there was a strong association with cocaine and strokes, and I wanted to find out why, so I went digging…

This February, the American Stroke Association held the ‘International Stroke Conference’ and a remarkable study was presented by Yu-Ching Cheng from the University Maryland School of Medicine in Baltimore.

It’s well-known that cocaine’s a highly addicted substance, but many people don’t know how easily it could cause a disability or stroke.

Astoundingly, between a quarter and a third of young people in the study by Cheng said they’d used cocaine at some time. In the study, 1101 patients aged 15-49 who had had a stroke any time from 1991-2008 were compared to 1154 controls of similar ages in the Baltimore-Washington DC area.

Snorting cocaine- is it worth it?

The results showed that having a history of cocaine didn’t necessarily increase your risk of having an ischaemic stroke later on in life. But it did show, however, that acute use of cocaine was associated with a 7-fold increase within the next 24 hours.

Also, the risk of having a stroke was higher in women.

The Science bit

Simply speaking, Ischaemic strokes are a ‘transient or permanent reduction in blood flow restricted to the territory of a major brain artery’.  The chances of dying from an ischaemic stroke are 30%.

Now for the science -turn away now, if you’re afraid of a little science talk!

As there’s a reduction in the blood supply (normally due to a thrombus- or giant mass of platelets and other things clogging up your blood vessel), this causes an energy failure to the brain, which causes the depolarisation of neurons. This causes the activation of specific glutamate receptors, normally stored inside the synaptic terminals, moves into the extracellular space by an energy dependent process , and so more glutamate is in its depleted energy state. This causes the opening of the AMPA receptors (actually called alpha-animo-3-hydroxy-5-methyl-4-isoxanole propionate- you can see why scientists use abbreviations!), causing membrane depolarisation, so increasing the amount of calcium and sodium, which in turn increase the amount of potassium released into the extracellular space.

This propagates a wave of depolarisation, whereby water moves into the extracellular space, creating an oedema.

Intracellular calcium’s important because it causes the activation of a series of destructive, boisterous enzymes such as proteases, lipases and endonucleases that allow the release of cytokines (chemical signals) and other mediators.

Calcium ions then over-activate the enzyme systems, generating free radicals by breaking down lipids (See week 2 CVD fellow biologists, to understand the mechanism by which this occurs!) which damages membranes and mitochondria.

Mediators are then triggered which activate the microglia, and this up-regulates the endothelial adhesion molecules, causing inflammatory molecules to invade and initiating the inflammatory response.

This occurs during a focal ischaemic stroke, but this is also surrounded by an area in which cells start to lose their membrane potential too- called the ‘penumbra’.

So now you know the science behind it all if you didn’t all ready.

Is it really worth it? Personally, I don’t think so as you never know what other kinds of horrid things they put into drugs.

I’m not against anyone doing drugs, everyone has free will, but I think people should be educated about the stuff they’re putting into their body.

One other thing-  If you think someone’s having a stroke, remember to act F.A.S.T.  (Face, Arms, Speech, Time).

Comment below if you think you’d risk it for a taste of the white stuff or tweet me @elspethhoulding, follow the debate #EHCocaineDebate 

References

http://www.uic.edu/com/ferne/pdf/pathophys0501.pdf

http://www.medscape.com/viewarticle/820592