Gene expression profile of patients affected by Metachromatic Leukodystrophy (MLD)

The genome-wide analysis of T lympocytes from 24 MLD patients and a corresponding number of matched controls reveals a list of differentially expressed genes that can be used to build classifiers that correctly classify not only patients and controls with high sensitivity and specificity, but also MLD patients into early- and late-onset clinical classes. Among the most differentially expressed genes, the class of metallothioneins shows a consistent and significant over-expression, confirmed also in affected tissues of patients and mouse models of MLD and other Lysosomal Storage Disorders, indicating metallothioneins a novel dynamic biomarker of disease progression and treatment response in this class of diseases. Moreover, gene onthology analysis performed on the microarray data suggest an involvement of stress response- and autophagy-related pathways as pathological mechanisms in MLD. Total RNA extracted from T-lymphocytes of 24 MLD patients and 24 age-and sex-matched controls