A recent study in Genetics in Medicine aiming at the identification by whole-exome sequencing of genes involved in infantile nystagmus found heterozygous missense mutations in the MANBA gene, which the encodes lysosomal beta-mannosidase. The mutations resulted in decrease of ?-mannosidase activities in the patients as well as in mutant-transfected HEK293T cells. MANBA is expressed in the pretectal nucleus of the developing midbrain, […]

In this work, Beverly Davidson’s group investigated delivery of the gene encoding the soluble lysosomal enzyme tripeptidyl peptidase 1 (TPP1) enzyme to the ependymal cells in a dog model of a Batten disease.  They show that this strategy delayed disease onset, extended life span, and protected dogs from early cognitive decline, suggesting that this approach could improve the […]

Giugliani R. Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey study. Am J Med Genet A. 2014 Aug;164(8):1953-64.   Giugliani et el evaluate the long-term effects of enzyme replacement therapy in Maroteaux-Lamy syndrome (MPS VI) by conducting a resurvey of […]

van Dussen et al. Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy. J Inherit Metab Dis. 2014 May 16. [Epub ahead of print] In a retrospective analysis of 80 patients with non-neuronopathic (type I) Gaucher disease, representing the majority of the cohort of such […]

Lysosomal storage disorders (LSDs) occur at a frequency of 1 in every 5,000 live births. This study proposes Lysotracker a commercially available fluorescent probe to measure the relative acidic compartment volume of circulating B cells as a potentially universal biomarker for LSDs. This marker was validated in a mouse model of the LSD Niemann-Pick type C1 disease […]

Gaucher’s disease (GD) due to mutations in the glucocerebrosidase gene (GBA) is divided into three clinical subtypes based on the absence (type 1) or presence (types 2 and 3) of neurological signs.  Glucosylceramide and glucosylsphingosine accumulation in the brain leads to massive neuronal loss in patients with neuronopathic GD (nGD). Vitner and colleagues found that modulating the receptor-interacting […]

A recent work in the Journal of Clinical Investigation highlights the role of lysosomal enzymes for protection against arthritis. Lysosomal enzyme beta-glucuronidase (GUSB) was found as a key regulator of arthritis severity associated to Lyme disease that is caused by the spirochete Borrelia burgdorferi, the most prevalent arthropod-borne illness in the United States. Severely arthritic C3H […]