Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders

Molecular Genetics and Metabolism
Brian W BiggerAlexey V Pshezhetsky

Abstract

Mucopolysaccharidosis (MPS) disorders are caused by deficiencies in lysosomal enzymes, leading to impaired glycosaminoglycan (GAG) degradation. The resulting GAG accumulation in cells and connective tissues ultimately results in widespread tissue and organ dysfunction. The seven MPS types currently described are heterogeneous and progressive disorders, with somatic and neurological manifestations depending on the type of accumulating GAG. Heparan sulfate (HS) is one of the GAGs stored in patients with MPS I, II, and VII and the main GAG stored in patients with MPS III. These disorders are associated with significant central nervous system (CNS) abnormalities that can manifest as impaired cognition, hyperactive and/or aggressive behavior, epilepsy, hydrocephalus, and sleeping problems. This review discusses the anatomical and pathophysiological CNS changes accompanying HS accumulation as well as the mechanisms believed to cause CNS abnormalities in MPS patients. The content of this review is based on presentations and discussions on these topics during a meeting on the brain in MPS attended by an international group of MPS experts.

Citations

Jan 24, 2019·Journal of Inherited Metabolic Disease·Stephanie C M NijmeijerIrene M Kuipers
Feb 7, 2020·Journal of Clinical Medicine·Gustavo M VianaAlexey V Pshezhetsky
Mar 1, 2020·Biomolecules·Valeria De PasqualeMarianna Caterino
May 29, 2020·Science Translational Medicine·Julie C UllmanAnastasia G Henry
Jan 16, 2020·International Journal of Molecular Sciences·Yuji Sato, Torayuki Okuyama
Jan 23, 2020·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·C de LaurentisC G Giussani
Apr 26, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Julie B EisengartTroy C Lund
Apr 25, 2020·Cells·Valeria De PasqualeLuigi Michele Pavone
May 16, 2020·Orphanet Journal of Rare Diseases·Karolina M StepienChristina Lampe
Jul 3, 2020·Cellular and Molecular Life Sciences : CMLS·Vladimir SytnykMelitta Schachner
Feb 14, 2020·International Journal of Molecular Sciences·Karolina PierzynowskaGrzegorz Węgrzyn
Nov 14, 2019·Orphanet Journal of Rare Diseases·Stephanie C M NijmeijerMargreet A E M Wagenmakers
Oct 28, 2020·International Journal of Molecular Sciences·Noelia BenetóIsaac Canals
Aug 30, 2019·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Valeria De Pasquale, Luigi Michele Pavone
Jul 28, 2020·Molecular Genetics and Metabolism·A BroomfieldS Wilkinson
Nov 25, 2020·Pediatric Clinics of North America·Alexander A BroomfieldStuart Wilkinson
Jan 29, 2021·Molecular Therapy : the Journal of the American Society of Gene Therapy·Hideto MorimotoHiroyuki Sonoda
Feb 19, 2021·The FEBS Journal·Oluwaseun FatobaToshihide Yamashita
May 9, 2021·Molecular Genetics and Metabolism·Nicolas J AbreuKevin M Flanigan
Aug 8, 2021·International Journal of Molecular Sciences·Christiane S HampeR Scott McIvor
Nov 20, 2021·Metabolic Brain Disease·Thiago CorrêaCíntia B Santos-Rebouças

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Molecular Genetics and Metabolism
Igor Nestrasil, Leonardo Modesti Vedolin
Molecular Genetics and Metabolism
Maria L EscolarHernán Amartino
Molecular Genetics and Metabolism
Maurizio ScarpaHernán Amartino
Molecular Genetics and Metabolism
Tord D AldenLeonardo Modesti Vedolin
© 2022 Meta ULC. All rights reserved