History of Pompe disease

Hi guys! Today, I am going to be sharing with you people about the history of Pompe disease. To begin, why is Pompe disease named Pompe disease? To clarify, this disease has nothing to do with the city Pompeii ( an ancient Roman city that was buried under volcano ashes after a volcano erupted).

The disease is actually named after Joannes Cassianus Pompe (1901 - 1945), a Dutch pathologist who characterized the disease in 1932. He described this disease as the accumulation of glycogen in muscle tissue in some cases of a previously unknown disorder.


Joannes Cassianus Pompe(http://pompestory.blogspot.sg/2009/04/joannes-cassianus-pompe-1901-1945.html)

 The basis of the disease remained a mystery until 1955, when Christian de Duve (1917-2013), a Nobel prize winning Belgian cytologist and biochemist.. Christian de Duve discovered lysosomes (which got him his Nobel prize), which led to his co-worker Henri G. Hers (1923-2008) to realise that the deficiency of a lysosomal enzyme for the breakdown of glycogen - alpha glucosidase, could explain the symptoms of Pompe disease.


Christian de Duve (http://www.nobelprize.org/nobel_prizes/medicine/laureates/1974/)

Despite recognizing the basis of the disease, it was difficult to find the appropriate treatment. Attempts to administer the enzyme led to its uptake by the liver instead of the target location - the muscle cells, where it is needed.

In the 1990s, two Dutch scientists, Arnold Reuser and Ans van der Ploeg a PhD student were able to show an increase in the enzyme's activity in the normal mouse muscles by using alpha glucosidase containing phosphorylated mannose residues purified from bovine tests.

In 1998, Dr Yuan-Tsong Chen and his colleagues at Duke university demonstrated for the first time that the enzyme alpha glucosidase (produced in Chinese Hamster Ovary cells), can actually clear the glycogen in the muscle tissue and improve the muscle function (in Pompe disease quail). This demonstration was later followed by the production of clinical grade alpha-glucosidase. This work eventually culminated in the start of clinical trials, with the first clinical trial including 4 babies receiving enzyme from rabbit milk and 3 babies receiving enzyme grown in Chinese Hamster Ovary cells.

 
Dr Yuan-Tsong Chen (http://www.aaezine.org/articles/vol23/23N2ExtraordinaryMeasures.shtml)

 SO, we've come to the end of our little history lesson. Hopefully you guys have learned something!

Rose

References: http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II