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Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders.

Maria Francisca Coutinho¹, Juliana Inês Santos², Sandra Alves³

¹Department of Human Genetics, Research and Development Unit, National Health Institute Doutor Ricardo Jorge, Rua Alexandre Herculano, 321 4000-055 Porto, Portugal. francisca_coutinho@yahoo.com.

International Journal of Molecular Sciences

|July 8, 2016

Summary

Substrate reduction therapy (SRT) offers a novel approach to managing lysosomal storage diseases (LSDs) by reducing substrate accumulation. This review highlights SRT

Keywords:

Gaucher disease (GD)Niemann-Pick type C (NPC)Sanfilippo syndrome)combination therapy eligluistat tartrate genistein miglustat mucopolysaccharidosis type III (MPS III substrate reduction therapy (SRT)

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Area of Science:

Biochemistry
Genetics
Pharmacology

Background:

Lysosomal storage diseases (LSDs) are rare genetic disorders stemming from enzyme dysfunction.
Current treatments like enzyme replacement therapy (ERT) are limited, especially for neuropathology, and are costly.

Purpose of the Study:

To review the concept and advancements in substrate reduction therapy (SRT) for LSDs.
To discuss the potential of SRT as a standalone or complementary treatment.

Main Methods:

Review of existing literature on substrate reduction therapy.
Analysis of breakthroughs and future directions in SRT for LSDs.

Main Results:

SRT aims to decrease substrate biosynthesis, thereby preventing storage, unlike ERT which targets enzyme deficiency.
SRT has shown promise and is being investigated as an alternative or adjunct to existing therapies.

Conclusions:

SRT represents a significant therapeutic strategy for LSDs, addressing limitations of current treatments.
The future of SRT lies in its potential as a monotherapy and, more importantly, as a complementary approach for LSDs.