Trusted Resources: Education
Scientific literature and patient education texts
Golgi Requires a New Casting in the Screenplay of Mucopolysaccharidosis II Cytopathology
source: Biologia futura
year: 2021
authors: Molnár K,Kobolák J,Dinnyés A
summary/abstract:Lysosome (L), a hydrolytic compartment of the endo-lysosomal system (ELS), plays a central role in the metabolic regulation of eukaryotic cells. Furthermore, it has a central role in the cytopathology of several diseases, primarily in lysosomal storage diseases (LSDs). Mucopolysaccharidosis II (MPS II, Hunter disease) is a rare LSD caused by idunorate-2-sulphatase (IDS) enzyme deficiency. To provide a new platform for drug development and clarifying the background of the clinically observed cytopathology, we established a human in vitro model, which recapitulates all cellular hallmarks of the disease. Some of our results query the traditional concept by which the storage vacuoles originate from the endosomal system and suggest a new concept, in which endoplasmic reticulum-Golgi intermediate compartment (ERGIC) and RAB2/LAMP positive Golgi (G) vesicles play an initiative role in the vesicle formation. In this hypothesis, Golgi is not only an indirectly affected organelle but enforced to be the main support of vacuole formation. The purposes of this minireview are to give a simple guide for understanding the main relationships in ELS, to present the storage vacuoles and their relation to ELS compartments, to recommend an alternative model for vacuole formation, and to place the Golgi in spotlight of MPS II cytopathology.
organization: Department of Anatomy, Cell and Developmental Biology, ELTE, Eötvös Loránd University, Pázmány Péter stny. 1/C, Budapest, 1117, Hungary. [email protected].DOI: 10.1007/s42977-021-00107-y
read more
Related Content
-
[Pharmacological Property, Mechanism of Action and Clinical Study Results of Pabinafusp Alfa (Genetical Recombinatio...Mucopolysaccharidosis type II (MPS II) i...
-
Hunter Syndrome (MPS II): An Uncommon Combination of Childhood Complaintshttps://www.youtube.com/watch?v=7kBGEYAF...
-
Hurler Holes in Hunter SyndromeA 16-year-old male presented to our hosp...
-
AVROBIO Receives Rare Pediatric Disease Designation from the U.S. FDA for AVR-RD-05, a Gene Therapy for Mucopolysacc...AVROBIO, Inc., a leading clinical-stage ...
-
X-Linked Recessive Inheritance Pattern in MPS II (Hunter Syndrome)https://www.onempsvoice.com/wp-content/u...
-
Luna and Partners Work to Accelerate Therapies for Hunter SyndromeAdvocacy organizations—the National MP...
-
How One Mother Turned Her Son’s Rare Disease Diagnosis Into an Opportunity to Help OthersMoira Taffarello and her husband have ex...