Das Gen der Woche. Blog

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The CLN Genes – When Children get Dementia

When it comes to dementia – the progressive loss of nerve cells and thus also of cognitive performance – most people immediately think of older people, perhaps their grandparents. Not many people know that dementia can affect the youngest. The diagnosis of “childhood dementia”, Batten disease, or neural ceroid lipofuscinosis, NCL for short, means a severe shock for around 15-20 parents a year in Germany. The prognosis is difficult to accept: Batten disease usually causes blindness and progressive loss of motor and cognitive functions and results in death in early adulthood. … Read more

Theresa with Doctor's Cap and Polar Bear. (c) Lars Nilse. 0

BSX – several years of my life and a thesis at last

People who know me well and in person, friends, family, colleagues, my boss, always looked at me in disbelief. “What? There is no Gene of the Week article on Bsx???” They are astonished because Bsx is the gene that has been with me, or- sometimes even more so – has been following me, for several years. Even if originally this wasn’t planned at all, the Bsx gene was holding so many previously unknown functions for me to discover that I ultimately filled most of my doctoral thesis by researching and describing these functions. In other words: I owe my amazing doctor’s hat mostly to the Bsx gene. But let’s start at the beginning.… Read more

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TMPRSS2, the entry point of SARS-CoV2 – Part 2

Thank you very much for your keen interest in my article from last week in which I explained that SARS-CoV-2 binds to the ACE2 protein on our cell surfaces so that it can enter our cells together with ACE2 itself. Over the last few weeks you have probably read quite a few times that Covid-19 often isn’t just cause an infection of the lungs, but probably affects many other tissues as well. Usually this is attributed to ACE2 being present in many other tissues. The idea behind it: all cells that carry ACE2 can be infected by SARS-CoV2. Well, today I would like to explain why it’s not that simple. If we look at the viral entry process in more detail, we find that at first only a part (the S1 part) of the spike protein binds to the ACE2 receptor and then…… Read more

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ACE2, the entry point of SARS-CoV2 – Part 1

Coronaviruses. For my part, I actually didn’t know anything about them, until the beginning of this very special year 2020. And then this year everything turned upside down and by now you have probably all heard enough of the latest coronavirus strain, SARS-CoV2. For those of you who spent the last months on Mars: SARS-CoV2 is the third strain of coronaviruses that recently expanded its range of host animals successfully to include humans and in this new host, us, can trigger serious respiratory diseases. … Read more

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MYBPC3: Editing the Human Germline

So, last week it was published. For some the breakthrough, for others the breaking of taboos. Researchers around the controversial stem cell guru Shoukhrat Mitalipov have “CRISPRed” out a serious hereditary disease from human embryos. Hopefully most of my readers know by now that CRISPR are those amazing “gene scissors” that can be designed in such a way that they can create a DNA double-strand break at (almost) any point in the genome. If, at the same time as this, CRISPR is programmed against a certain defective gene, a “healthy” variant of this gene is introduced into a cell, there is a high chance that this cell will replace the disease-causing gene with the correct variant. And if this cell is now a fertilized egg cell, then all the offspring of this cell and with it the entire organism will carry the repaired gene version. … Read more

Tardigrade with Helmet 0

Dsup: What are water baers doing in space?

Whoever read the newspaper lately, probably came across this story: the BBC has written about it, but also The Guardian and the Washington Post: there might be life now on the moon! The questions: since when? from where? and what kind? are easy to answer: since April 2019, from Earth and it’s water bears or tardigrades. I still remember my biology undergrad classes: tardigrades were a highlight in them! … Read more

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Upf3a, the genetic crisis manager

We have reached a stage where the amount of studies that describe the function of a particular gene in a particular model organism and under particular conditions has become unmanageable. At the same time, articles that describe a completely new cellular mechanism that may occur in all animal and plant cells, but has remained hidden so far, became extremely rare. That’s why the two articles that appeared in the journal Nature last week are so special. And to understand what makes them special, we need to have a closer look on a paradoxical observation in the field of genetics that has become more prevalent over the last few years.… Read more

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Arc – How an ancient virus helps us learn

The year 2018 is about to end and it was yet another extremely eventful year for molecular biology and biomedicine. CRISPR has captured the headlines around the globe. But not every piece of research that has caused a sensation and astonishment this year has been directly related to CRISPR. As early as January 2018, two articles were published in the same issue of the journal Cell, which was jaw-dropping for several members of our working group, including myself. … Read more

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p53, how we almost forgot about the guardian of the genome when CRISPRing around

When in 1979 six research groups independently described a 53 kDa protein, none of the participants suspected to which genetic superstar this protein would develop. This protein, which due to its molecular weight was given the not-so-impressive name p53, is perhaps the most important policeman in our cells; but only as long as it works properly. If p53 loses its functionality, it’s getting pretty dangerous. In fact, no other gene is mutated more frequently in tumor cells than p53. So how does normal p53 manage to keep all of our body cells in check and what does it all have to do with CRISPR?… Read more

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