Tagged: Disease

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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

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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

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ABL – a Leukemia Gene in a New Context

This week I once again decided on a gene classic. This classic, however, has just been described in a new context. But first, the already well established connection between this gene and a particular form of leukemia leads us back to the early 1960s. It was during these medically exciting years – in which the birth control pill, for example, made its revolutionary introduction – that for the first time a strange-looking chromosome was associated with a severe form of leukemia, chronic myelosis. This strange chromosome was named the Philadelphia chromosome after the location of the first discovery.… Read more

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UBE3A: how Epigenetics can Determine the Nature of a Disease

Most readers probably learned it in school: we carry two copies of every gene in us. Mutations in these genes can cause disease. We call it a recessive mutation if such a variant has to be inherited from mother and father, i.e. both copies of the gene in the child must be affected for a disease to manifest. For a dominant variant, on the other hand, it is sufficient if either the mother or the father inherits such a copy, because a single copy of this variant triggers the disease. An example of a devastating mutation with dominant inheritance is Huntigton’s chorea. This degenerative disease, which is unfortunately fatal without exception, is passed on to the child from an affected parent with a 50% probability. It does not matter whether the variant was inherited from the mother or the father for the course of the disease, because on the so-called autosomes (these are all chromosomes except the sex chromosomes X and Y), both copies of the DNA segments are actually equivalent. But is that really always true? Not quite! And that is one of many reasons why the subject of epigenetics is currently so popular.… Read more

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