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Advanced Research in Lysosomal Storage Disorders

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A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: closed (30 April 2024) | Viewed by 5563

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Special Issue Editors

Dr. Francisco J. del Castillo

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Guest Editor

1. Servicio de Genética, Hospital Universitario Ramón y Cajal - IRYCIS, Madrid, Spain
2. Unit 728, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
Interests: genomics of rare diseases; lysosomal diseases; autoinflammatory diseases; genetics of hearing impairment; animal models of disease

Prof. Dr. Enrique J. Calderón

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Guest Editor

Departamento de Medicina, Instituto de Biomedicina de Sevilla, CIBERESP, Hospital Universitario Virgen del Rocío, Facultad de Medicina, Universidad de Sevilla, Sevilla, Spain
Interests: epidemiology and pathophysiology of Pneumocystisis infection and colonization, transmission, metabolism, molecular biology, clinical manifestation, diagnostic procedures, and treatment; Pneumocystis jirovecii; Pneumocystis sp.; Pneumocystis pneumonia; molecular epidemiology; pathophysiology
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Special Issue Information

Dear Colleagues,

Lysosomal diseases (LDs) are a group of about 70 hereditary metabolic disorders caused by the inactivation of one of the genes encoding components of lysosomal machinery. LDs are rare diseases (combined incidence of about 1:5500) with mainly recessive inheritance. LDs have traditionally been considered storage disorders, with intralysosomal accumulation of substrates due to inactivation of one of the lysosomal hydrolases, leading to cell dysfunction due to overloaded lysosomes and eventual cell death. However, in recent years, the lysosome has emerged as an organelle with many more functions, including nutrient sensing, response to stress induced by mitochondrial dysfunction, protein misfolding or pathogens, morphogen signaling, autophagy, and its impact on inflammation and immunity, membrane repair, lipid homeostasis, and control of exocytosis, as well as regulation of the balance between catabolism and anabolism. Intriguingly, LDs are increasingly considered novel entry points into the pathogenesis of aging and neurodegenerative diseases because lysosomal dysfunction is now understood to be a hallmark of such disorders.

This Special Issue of Biomedicines will showcase novel developments in the field, presenting the state of the art on the screening, diagnosis, pathophysiology, and treatment of lysosomal diseases from all points of view (clinical, biochemical, genomic, and biomarkers) and will highlight questions that need to be addressed in the field.

Dr. Francisco J. del Castillo
Prof. Dr. Enrique J. Calderón
Guest Editors

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Published Papers (4 papers)

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Research

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15 pages, 325 KiB

Open AccessArticle

Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study

by Sinziana Stanescu, Patricia Correcher Medina, Francisco J. del Castillo, Olga Alonso Luengo, Luis Maria Arto Millan, Amaya Belanger Quintana, Maria Camprodon Gomez, Lydia Diez Langhetée, Oscar Garcia Campos, Ana Matas Garcia, Jimena Perez-Moreno, Barbara Rubio Gribble, Nuria Visa-Reñé, Pilar Giraldo-Castellano and Mar O’Callaghan Gordo

Biomedicines 2023, 11(10), 2861; https://doi.org/10.3390/biomedicines11102861 - 22 Oct 2023

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Abstract

This was a retrospective, multicenter study that aimed to report the characteristics of type 3 Gaucher disease (GD3) patients in Spain, including the genotype, phenotype, therapeutic options, and treatment responses. A total of 19 patients with GD3 from 10 Spanish hospitals were enrolled in the study (14 men, 5 women). The median age at disease onset and diagnosis was 1 and 1.2 years, respectively, and the mean age at follow-up completion was 12.37 years (range: 1–25 years). Most patients exhibited splenomegaly (18/19) and hepatomegaly (17/19) at the time of diagnosis. The most frequent neurological abnormalities at onset were psychomotor retardation (14/19) and extrinsic muscle disorders (11/19), including oculomotor apraxia, supranuclear palsy, and strabismus. The L444P (c.1448T>C) allele was predominant, with the L444P (c.1448T>C) homozygous genotype mainly associated with visceral manifestations like hepatosplenomegaly, anemia, and thrombocytopenia. All patients received enzyme replacement therapy (ERT); other treatments included miglustat and the chaperone (ambroxol). Visceral manifestations, including hepatosplenomegaly and hematological and bone manifestations, were mostly controlled with ERT, except for kyphosis. The data from this study may help to increase the evidence base on this rare disease and contribute to improving the clinical management of GD3 patients. Full article

(This article belongs to the Special Issue Advanced Research in Lysosomal Storage Disorders)

Review

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10 pages, 257 KiB

Open AccessReview

Women with Gaucher Disease

by Maria del Mar Meijon-Ortigueira, Isabel Solares, Cecilia Muñoz-Delgado, Sinziana Stanescu, Marta Morado, Cristina Pascual-Izquierdo, Lucía Villalon Blanco, Amaya Belanger Quintana, Covadonga Pérez Menéndez-Conde, Montserrat Morales-Conejo and Jesús Villarrubia-Espinosa

Biomedicines 2024, 12(3), 579; https://doi.org/10.3390/biomedicines12030579 - 05 Mar 2024

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Abstract

Gaucher disease is an inherited disorder in which there is a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucosylceramide. Although much scientific evidence is now available, there is still limited data on the impact on the different life stages of women with this disease. Among other alterations, a delay in menarche has been described, although it has not been related to fertility problems. Menorrhagia is relatively frequent, being related to the presence of thrombocytopenia, thrombocytopathies or coagulation disorders. On the other hand, pregnancy planning is an increasingly frequent concern. All patients should undergo genetic counseling, and it is important to monitor the appearance or worsening of organomegaly, bone and hematologic abnormalities to establish clinical and therapeutic recommendations. Management during the puerperium will depend on the evolution of gestation, and, during the lactation period, the potential appearance of bone complications should be assessed. An early onset of menopause, compared to the general population, has also been described, which may accelerate the development of osteopenia. Finally, although the usual screening protocols for neoplasms are currently being performed, it is recommended to watch for early signs of liver or renal neoplasms when examining the results of imaging tests performed during evaluations for this disease. Full article

(This article belongs to the Special Issue Advanced Research in Lysosomal Storage Disorders)

20 pages, 3106 KiB

Open AccessReview

The Interplay of Glycosaminoglycans and Cysteine Cathepsins in Mucopolysaccharidosis

by Alexis David, Thibault Chazeirat, Ahlame Saidi, Gilles Lalmanach and Fabien Lecaille

Biomedicines 2023, 11(3), 810; https://doi.org/10.3390/biomedicines11030810 - 07 Mar 2023

Cited by 3 | Viewed by 1848

Abstract

Mucopolysaccharidosis (MPS) consists of a group of inherited lysosomal storage disorders that are caused by a defect of certain enzymes that participate in the metabolism of glycosaminoglycans (GAGs). The abnormal accumulation of GAGs leads to progressive dysfunctions in various tissues and organs during childhood, contributing to premature death. As the current therapies are limited and inefficient, exploring the molecular mechanisms of the pathology is thus required to address the unmet needs of MPS patients to improve their quality of life. Lysosomal cysteine cathepsins are a family of proteases that play key roles in numerous physiological processes. Dysregulation of cysteine cathepsins expression and activity can be frequently observed in many human diseases, including MPS. This review summarizes the basic knowledge on MPS disorders and their current management and focuses on GAGs and cysteine cathepsins expression in MPS, as well their interplay, which may lead to the development of MPS-associated disorders. Full article

(This article belongs to the Special Issue Advanced Research in Lysosomal Storage Disorders)

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Other

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11 pages, 1077 KiB

Open AccessCase Report

Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease

by Claudia Rossi, Rossella Ferrante, Silvia Valentinuzzi, Mirco Zucchelli, Carlotta Buccolini, Sara Di Rado, Daniela Trotta, Liborio Stuppia, Luca Federici and Maurizio Aricò

Biomedicines 2023, 11(10), 2672; https://doi.org/10.3390/biomedicines11102672 - 29 Sep 2023

Cited by 1 | Viewed by 995

Abstract

Gaucher disease (GD) is an autosomal recessive inborn error of metabolism, belonging to the group of lysosomal storage diseases (LSDs). GD is caused by a defect in lysosomal glucocerebrosidase, responsible for glucosylceramide breakdown into glucose and ceramide. Because of this dysfunction, glucosylceramide progressively accumulates in the liver, spleen, bone marrow, bones, and in other tissues and organs, also causing anemia, hepatosplenomegaly, thrombocytopenia, and bone symptoms. Depending on neurological symptoms, GD is classified into three main types. Treatment options for LSDs, including enzyme replacement therapy, hematopoietic stem cell transplantation, small molecular weight pharmacologic chaperones, and, for some LSDs, gene therapy, are increasingly available. For this reason, many efforts are aimed at implementing newborn screening for LSDs since early detection accompanied by a prompt intervention has been demonstrated to be essential for reducing morbidity and mortality and for improved clinical outcomes. Herein, we report two siblings of preschool age, presenting with hepatosplenomegaly and thrombocytopenia. The initial suspicion of GD based on the clinical picture was further supported by biochemical confirmation, through newborn screening workflow, including first- and second-level testing on the same dried blood spot samples, and finally by molecular testing. Full article

(This article belongs to the Special Issue Advanced Research in Lysosomal Storage Disorders)

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