On Tuesday 7 July 2020, M.Y. Niño Martínez will defend her PhD dissertation, entitled: ‘The Genotype-Phenotype Correlation in Pompe Disease Studied From an Enzymatic and Molecular Perspective’.
This thesis is about Pompe disease. Pompe disease is a rare disorder characterized by skeletal muscle weakness leading to serious mobility and respiratory problems over time and is caused by acid α-glucosidase deficiency; a lysosomal glycogen degrading enzyme abbreviated as GAA. The first symptoms can manifest at any age, from birth to late adulthood. In the most severe form, babies suffer from generalized muscle weakness, they have a grossly enlarged heart, and their respiratory function is compromised to such extend that they usually succumb in the first year of life. Affected adults often become wheelchair bound and may need respiratory support. The research described in the various chapters of this thesis tries to answering the following questions: i) How to measure the GAA enzyme activity for diagnostic purposes at best? ii) How does the Pompe disease phenotype correlate with the pathogenic abnormalities that are found in the GAA gene? iii) What is the role of modifying factors in disease severity and response to ‘enzyme replacement therapy’; the only, currently available, life supporting therapy.
The PhD defences will not take place publicly in the Senate Hall or Professor Andries Queridoroom due to the coronavirus. The candidates will defend their thesis online.