Genetic diversity of Lysosomal Storage Disorders in Portugal

Amaral, Olga

http://hdl.handle.net/10400.18/3627

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Authors

Amaral, Olga

Abstract(s)

Since the beginning of the analysis of mutations causal of Lysosomal Storage Diseases (LSDs) it became perceptible that the Portuguese presented distinct disease and mutational patterns from those of other populations. Some LSDs, such as Gangliosidosis GM2 (GM2), Metachromatic Leukodystrophy (MLD), Gaucher Disease (GD), Mucopolysaccharidosis type I (MPS I) and even Niemann Pick type C1 (NPC1) were noted for their relevance in terms of their representation in the Portuguese population. Concomitantly, other diseases seemed to be under represented (Pinto et al, 2004). In terms of causal mutations there were particular patterns of diversity which raised interest and led to the determination of the frequency of specific mutations in the Portuguese population. The patterns encountered were sometimes indicative of founder effects and of particular population demographic movements, which were later confirmed by the study of the haplotypes associated with the mutations. In this work we carried out three population screenings in order to establish the frequency of different mutations associated with variant B1 of GM2, MPS I and the infantile form of MLD. Such studies allowed the evaluation of the respective frequencies.

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