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Lysosomal Hydrolases

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...

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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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Targeting neurological abnormalities in lysosomal storage diseases.

Raquel van Gool¹, Anthony Tucker-Bartley², Edward Yang³

¹Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Faculty of Psychology and Neuroscience, Section Neuropsychology & Psychopharmacology, Maastricht University, Maastricht, The Netherlands.

Trends in Pharmacological Sciences

|November 30, 2021

Summary

Lysosomal storage disorders (LSDs) cause central nervous system (CNS) damage, leading to neurological and psychiatric issues. Focused ultrasound may improve drug delivery for treating these complex brain conditions.

Keywords:

autophagy central nervous system abnormalities lysosomal storage disease neurological symptoms psychiatric symptoms

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Area of Science:

Neurology
Genetics
Biochemistry

Background:

Lysosomal storage disorders (LSDs) are a group of genetic diseases characterized by the accumulation of undigested materials within lysosomes.
Central nervous system (CNS) involvement is a common and severe feature of many LSDs, leading to significant neurological and psychiatric morbidity.
Defective lysosomal function in the CNS disrupts normal cellular processes like autophagy, resulting in neurodegeneration and diverse clinical symptoms.

Purpose of the Study:

To review the neurological and biobehavioral phenotypes associated with major classes of LSDs.
To discuss current and emerging therapeutic strategies targeting neuropathology in LSDs.
To propose focused ultrasound (FUS) mediated blood-brain barrier (BBB) opening as a method to enhance therapeutic delivery to the CNS.

Main Methods:

Literature review of neurological and psychiatric manifestations in LSDs.
Analysis of therapeutic strategies under development for LSDs, focusing on CNS-targeted treatments.
Discussion of focused ultrasound technology for BBB opening and its potential application in LSDs.

Main Results:

LSDs share common downstream consequences in the CNS, including neurocircuitry dysfunction, neurodegeneration, and sensory, motor, cognitive, and psychological symptoms, despite unique genetic origins.
Various therapeutic strategies are being developed to address the multifaceted pathology of LSDs.
Enhanced delivery of disease-modifying therapies to the CNS remains a significant challenge.

Conclusions:

Neuropathology is a critical component of LSDs, necessitating targeted therapeutic interventions.
Focused ultrasound (FUS) offers a promising approach to overcome the BBB, potentially improving the efficacy of CNS-directed therapies for LSDs.
Further research into FUS applications could revolutionize treatment strategies for LSDs affecting the central nervous system.