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Unifying biology of neurodegeneration in lysosomal storage diseases.
J Inherit Metab Dis
January 2025
Department of Life Sciences, Manchester Metropolitan University, Manchester, UK.
There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single-gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 different genes converge on this central cellular phenotype is unclear.
View Article and Find Full Text PDFIn vivo brain delivery of BBB-enabled iduronate 2-sulfatase in rats.
Fluids Barriers CNS
January 2025
Human Health Therapeutics Research Centre, National Research Council Canada, Ottawa, ON, Canada.
Background: Iduronate-2-sulfatase (IDS) deficiency (MPS II; Hunter syndrome) is a disorder that exhibits peripheral and CNS pathology. The blood brain barrier (BBB) prevents systemic enzyme replacement therapy (ERT) from alleviating CNS pathology. We aimed to enable brain delivery of systemic ERT by using molecular BBB-Trojans targeting endothelial transcytosis receptors.
View Article and Find Full Text PDFEpidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation.
Turk Arch Pediatr
January 2025
Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, Russia.
Objective: The study aimed to evaluate the epidemiological, clinical, and molecular data of mucopolysaccharidosis type II (MPS II) patients and their outcomes using the national registry of patients in the Russian Federation (RF). Materials and Methods: In the retrospective cohort study, the authors included data from the Russian national registry of MPS II. Results: The prevalence of MPS II in RF is 0.
View Article and Find Full Text PDFHearing loss in patients with Morquio A syndrome: A scoping review.
Medicine (Baltimore)
January 2025
Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Iccesi, Cali, Colombia.
Background: Hearing impairment is a prevalent clinical feature in Morquio syndrome (mucopolysaccharidosis IVA or MPS IVA) patients, often presenting in diverse forms: conductive, sensorineural, or a combination known as mixed hearing loss. The mixed form entails a blend of both conductive and sensorineural elements, typically exhibiting a progressive trajectory. This scoping review aimed to comprehensively analyze available evidence pertaining to the pathophysiology, classification, epidemiology, and clinical management of hearing loss in individuals with MPS IVA.
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