This statement was quoted by the famous Dutch football player, Johan Cruyff, concluded Prof Hans Aerts of the Dept of Biochemics at the Academic Medical Centre of Amsterdam, at the end of the Dutch Conference on 25 October 2003.
'Every disadvantage has its advantage, is the inspiration for my talk which deals with the more peculiar aspects of Gaucher disease,' stated Prof Aerts at the conclusion of the Dutch Conference on 25 October.
'Research in the clinic and in the laboratory has shown that people with Gaucher disease are remarkable in many aspects. The presence of large quantities of abnormal macrophages (cells) in their bodies results in fascinating biochemical and physiological adaptations. 'For example a couple of abnormalities occur in their blood that would inevitably result in serious complaints in other individuals. They can tolerate high levels of a group of proteins called cytokines which act in an inflammatory way. They also have a low cholesterol level in their blood and a high resting energy expenditure.
'Not only scientific curiosity prompts us to investigate these matters. Knowledge about these remarkable adaptations might lead to useful application for other diseases. 'Amongst the Jewish Ashkenazi population, one in every 8-15 individuals is a carrier of a genetic mutation for Gaucher disease. This decreases to one in every 50-70 individuals in the Netherlands, and amongst Caucasians, there is one carrier in every 50-200 individuals.
Selective Advantage for Carriers
'The latest ideas about the onset and rapid spread in Europe of the most common mutation N370S underlying Gaucher disease deserve attention. The temporary existence of a strong selective advantage for carriers seems likely. The nature of this advantage is still unclear and a source of speculation. 'One idea is that the mutation N370S originated around 500-700 AD.
Maybe there was an advantage in fighting the plagues that savaged Europe at that time. In 1347-1352 one third of the population died from the plague. It took over 300 years before the original number of the population was restored.
Enormous Progress
'There are 60 million, million cells in the human body with 200 million proteins. The blood contains 10 million distinct proteins. There are also more than 35,000 genes in the body. An enzyme is a protein which can make chemical changes and make new proteins.
'During the last 20 years, the developments concerning Gaucher disease are a perfect example of the enormous progress that can be made in health care, even in rare disorders. One can look back with some pride to the great achievements, however enormous challenges still remain.
'Since the Dutch Gaucher Association was formed 20 years ago (Prof Aerts was a founder member), this success can be measured in seven year cycles. From 1983-1990 a great deal of basic research was performed; in 1990-1997 enzyme replacement therapy became available and was of great benefit to many patients; and from 1997-2004 advances have been made in discovering effective bio-chemical markers to plot the patients' progress (see article opposite). In addition substrate reduction therapy (Zavesca) has been approved as a second drug for Gaucher disease.
'Sadly, it has to be concluded that the last 20 years did not make a world of difference for every patient with Gaucher disease. This is inevitable due to the fact that the most severe forms of the disease can still not be treated effectively and some patients are not diagnosed sufficiently early
Source: Gauchers News March 2004.
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Gauchers Association 2004.