Crazy Project of the third kind

I had developed at least two more or less enthusiastic projects during the last 5 years or so, which had little to do with my job or my skills. But if one reads good autobiographies of gifted people, one is occasionally surprised what sudden new talents they discover and follow with great energy.

So it happened to me 6 years ago, when I had to work together with a PhD student from Iran, met her more often than nessesarry for the project, and after she left I suffered of bad heartache. So I tried to compensate this loss with developing more interest in the politics of current Iran, issues of human rights and the question why people from there leave the country to look for freedom abroad. I came across some morvellous books, like those from Amir H. Cheheltan, unfortunately still completely unknown in the West, who with describes the psychology of victims and traitors in the political system of Iran. Another one were Shahrnush Parsipur’s memories about her time in Evin prison (kissing the Sword). I developed the idea to collect letters from Iranian political prisoners, which they send to their friends or family, translate these letters into as many as possible foreign languages (in a sort of community afford) and publish them on a website. I came quite far with this project, and even had some response from foreign friends, colleagues or just internet buddies who contributed the translations. But my idea that the project could get viral did not worked out. Although I tried to promote it by inviting some famous political artists, social scientists and political activists in Germany, Europe, the US, there was not so much response. The website, however, is still active and its called Evin Rosetta.

The next funny project, with some political and some cultural and entertaining context was my plan to develop a Vineyard here in Munich, using one of the artificially made rubbish hills. It should have been a Vineyard of the Nations, because I invited people from quite different countries (Russia, US, Iran, Germany, Afghanistan, Israel) to participate. The flyer from our first meeting you can find here.

But again it appeared much harder to motivate the people to stay on board. Some simply said they had no time, others honestly expressed their doubts or their fear to do something with foreigners.

Maybe I should post an new announcement via Twitter. Although it is only for daily news, the range of readers and potential responders could be much larger.

What it takes to succesfully launch a really crazy project can be red here:

Voyagers Golden Record.

About the design of the golden data record with information about our earth, mankind and a couple of sounds and voices and music from different sources. The Golden Record was launched on board the Voyager probe to travel across the universe, and maybe being found and played by an extraterrestrial civilisation.

This is my favorite, but also my most painful gene : PYGM

Well, I think I can say that I am a pretty good geneticist, published at least 30 papers in internationally recognized journals that cover topics such as genetics of cancer, genetics of neurological diseases, genetics of stem cells and of embryonic development and a lot about the inherited susceptibility for diseases after environmental stress.

Now, in my early 50s, I have to anticipate that my own genome is also not free of any disease-predisposing abnormalities. I recognized some odd pain in my leg muscles about 10 years ago, when some really horribly pains struck me after walking down the stairway from our 5th floor apartment. 

After consulting various specialist doctors I ended up at the F.Miescher Clinic in Munich, which is specialize for neuro-muscular diseases. After taking a biopsy from my upper leg muscle they found that one enzyme, glycogene-phosphorylase V was completely absent. A subsequent genetic analysis that I did in our own lab confirmed that I am homozygous for a rare null-allele of the gene PYGM. McArdles disease, which is caused by this congenital condition, has a population frequency of 1 in 100.000. As in my case, both of my parents are heterozygous carriers (i.e. they carry one disease allele and one intact allele of PYGM, and due to the later they are both un-affected). I was the unlucky case of inheriting from both my mom and my dad their abnormal copy of PYGM. So I have the two bad copies in my germline, therefore I have the disease. 

O.k., I have to admit it is a disease one can live with quite easily.

There is

-  no life shortening associated

-  in my case, severe muscle pain only while climbing down (strange, I can climb up thousands of meters in the mountains, but not 10 meters downhill)

-  no problem riding the bicycle

-  no problem going dancing

-  no problem going skying (down-hill, long-distance, or touring)

When I walk down a long stairway, however, or if I climb down a hill, I got really bad muscle cramps which indicate severe destruction of muscle fibers (rhabdo-myelosis).

The only way to ease this pain in the past was to increase the glucose uptake before physical activity. But this was only partly efficient. No I got something new (and I have to admit that I found it through the internet at a patients forum:  It is a special kind of sugar (called D-Ribose, of which all our RNA molecules are made of), and it is prescribed against general muscles fatigue. The idea is, that D-Ribose can bridge the time between the depletion of glukose-generated ATP in the muscle cells and the production of new glucose from serum glycogen (which is impaired in McArdles patients) by quickly providing an energy source to the mitochondria.

I have to admit that I am not a very good biochemist, so I don't know exactly how and where D-Ribose can be used in  the mitochondrial cycle. Anyway, I believe that it works because it is based on scientific evidence.

From next week on, we will do our annual vacations in Bulgaria, and there are mountains of various levels of altitude, where I can do a controlled study with and without D-Ribose administration (because there is only a small market for D-Ribose, the stuff is about 50 x more expensive that ordinary sugar. So not really the stuff I will use to sweeten my tea with).

I will seriously report about it here. However will be the results:  These mountains are pretty impressive and beautiful anyway.  In the worst case, I will be caught on the very peak, and not being able to get home.  Than somebody has to come and catch me with a rescue helicopter.


Addenum: Maybe I should explain  why I nominated PYGM my most favorite gene: The germline mutation Arg50X (which causes expression of a truncated, inactive glycogen phosphorylase enzyme) not only predisposes strongly for McArdles disease with its sometimes painful muscles cramps, it has the beneficial side effect that the glukose level in blood serum is always quite low (because the muscle cells have to satisfy all their energy need from the free circulating glucose). This has the consequence that very little glucose is available to be converted in fatty acids and stored in the form of dad bod. So McArdle patients are usually pretty in shape, and even when they eat as much as they want, they have no problems keeping their body weight.

Astronomy in the Trump era

Here is what you get if a person that never in life red a book suddenly feels entitled to teach the public about what is right and what is wrong:

WASHINGTON (The Borowitz Report)—Attacking the media for its “very unfair” coverage of Monday’s solar eclipse, Donald J. Trump said on Saturday that the sun was equally to blame for blocking the moon. “The fake news is covering the eclipse from the sun’s side instead of the moon’s side, but if you look at it from the moon’s side the sun is blocking the moon’s side,” he said. “There are so many sides you can’t count all the sides.” Additionally, Trump tore into the sun itself, calling it a “showboat” for its role in the solar eclipse. “The sun thinks the world revolves around it,” Trump said. “Sad.” Trump said the sun was a “big problem” that his predecessor, Barack Obama, did nothing to solve, but that that situation was about to change. “It will be handled—we handle everything,” Trump said, adding that a preëmptive military strike on the sun was “very much on the table.”

On Monday, Trump had still doubts of the real possibility that the sun could hide behind the moon, and therefore he took a quick look to the spectacle - with bare eyes (who cares, if you are already politically blind).

Maybe he has some unused preservatives in his bath-room drawer. In this case I could instruct him how to use them for building a pair of ad-hoc eclipse protection glasses.