Progerie - Why children age in fast motion

They are happy kids with normal childlike needs and desires - but their lifetime is terribly short. As in time-lapse, they age, the child-like old people, their 15th Age, most reach no more. Thanks to human genome research, a first breakthrough in cause and therapy has been achieved. Hutchinson-Gilford Syndrome (HGS), also called Progerie, is fortunately a very rare disease. There are around 50 patients worldwide, according to estimates, in Germany there are about six children.

Progerie: Premature aging

Progerie comes from Latin and Greek and means "premature aging". The victims suffer from, among others:

  • stunted growth
  • faster skin aging
  • bone loss
  • arteriosclerosis
  • hair loss
  • Joint changes.

Heart disease or strokes lead to early death. Although very rare diseases such as these are being researched, resources are limited, not least because of the large discrepancy between expense and revenue for the pharmaceutical companies. In the case of HGS, a very first, albeit small, glimmer of hope is apparent.

HGS: cause is a genetic defect

Researchers discovered in 2003 that Progerie appears to be based on a single mutation in the laminin gene on chromosome 1. The consequence of the mutation: the tissue can no longer regenerate. Simply put, laminins are proteins, ie proteins. These are crucial in building the nuclear envelope.

Dr. Francis S. Collins, director of the American Human Genome Research Institute in Bethesda, Maryland (USA), together with researchers from the Progeria Research Foundation, reported on what happens with the mutation: a single "spelling mistake" in the Lamin A Gene (LMNA) is responsible. Lamin-A is the key component of the membrane surrounding the nucleus. The researchers found that 18 out of 20 Progerie children all have the same typing error in the lamin A gene: the base cytosine is swapped with the base thymine. The modified protein is called progerin.

To understand: In the DNA - on which all hereditary information is stored - the four bases adenine, cytosine, guanine and thymine occur, and if they are correctly "arranged", the cells develop normally.

Hope gives a cancer drug

This discovery and knowledge of the gene defect at Progerie was the prerequisite for a pivotal discovery in the context of a cancer drug still under test. As the journal Science reported on February 16, 2006, the drug FTI (farnesyltransferase inhibitor) is seen as a hope in the treatment of various cancers such as leukemia. Namely, it interferes with signal transduction pathways and enzyme activities and prevents the stimulation of cancer cell division.

The active substance FTI may also be effective in progeria. In laboratory experiments with mice at the University of California at Los Angeles (UCLA), the small rodents who suffered from progeria were given FTIs. The FTI were crucially responsible for the fact that an enzyme was blocked - with the result that the faulty Progerin molecules were not even built into the nuclear membrane. Instead, they accumulated at the core, where, according to scientists, much less harm. Most mice showed a significant improvement in body weight, bone stability compared to a control group after treatment with FTI. However, the disease was not completely cured.

Progeria and genetic research

The steps that genetic research is taking are small. Sometimes it takes many years for a breakthrough to be achieved. The discussion about ethical responsibility, the feasible and the justifiable gets a human dimension in the face of such diseases as progeria. Much education will be needed.

But the fact is: the comprehensive analysis of the DNA sequence is aimed at understanding the human organism. "Man's genetic endowment is the starting point for recognizing and treating the causes of the disease, and the human genome project is expected to find genetic alterations in the complex of around 10, 000 diseases." - that's the name of the German Human Genome Project.

This initiative, funded by the Federal Ministry of Research and the German Research Foundation (DFG), aims to systematically identify and characterize the structure, function and regulation of human genes, especially those of medical relevance.

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