AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies

Huiya Yang; Robert H Brown Jr; Dan Wang; Kevin A Strauss; Guangping Gao

doi:10.1016/j.molmed.2021.02.004

AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies

Trends Mol Med. 2021 Jun;27(6):520-523. doi: 10.1016/j.molmed.2021.02.004. Epub 2021 Mar 10.

Authors

Huiya Yang¹, Robert H Brown Jr², Dan Wang³, Kevin A Strauss⁴, Guangping Gao⁵

Affiliations

¹ Horae Gene Therapy Center, University of Massachusetts Medical School, Worcester, MA, USA; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA; Li Weibo Institute for Rare Diseases Research, University of Massachusetts Medical School, Worcester, MA, USA.
² Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA; Li Weibo Institute for Rare Diseases Research, University of Massachusetts Medical School, Worcester, MA, USA.
³ Horae Gene Therapy Center, University of Massachusetts Medical School, Worcester, MA, USA; Li Weibo Institute for Rare Diseases Research, University of Massachusetts Medical School, Worcester, MA, USA; RNA Therapeutics Institute, University of Massachusetts Medical School, Worcester, MA, USA.
⁴ Clinic for Special Children, Strasburg, PA, USA. Electronic address: kstrauss@clinicforspecialchildren.org.
⁵ Horae Gene Therapy Center, University of Massachusetts Medical School, Worcester, MA, USA; Li Weibo Institute for Rare Diseases Research, University of Massachusetts Medical School, Worcester, MA, USA; Department of Microbiology and Physiological Systems, University of Massachusetts Medical School, Worcester, MA, USA; Department of Medicine, University of Massachusetts Medical School, Worcester, MA, USA. Electronic address: guangping.gao@umassmed.edu.

Abstract

De novo glycosphingolipid (GSL) biosynthesis defects cause severe neurological diseases, including hereditary sensory and autonomic neuropathy type 1A (HSAN1A), GM3 synthase deficiency, and hereditary spastic paraplegia type 26 (HSPG26), each lacking effective treatment. Recombinant adeno-associated virus (AAV)-mediated gene therapy has emerged as a powerful treatment for monogenic diseases and might be particularly suitable for these neurological conditions.

Keywords: adeno-associated virus; gene therapy; glycosphingolipid biosynthesis deficiency.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

MeSH terms

Dependovirus / genetics*
Epilepsy / genetics
Epilepsy / therapy*
Genetic Therapy / methods*
Genetic Vectors / administration & dosage*
Genetic Vectors / genetics
Hereditary Sensory and Autonomic Neuropathies / genetics
Hereditary Sensory and Autonomic Neuropathies / therapy*
Humans
Phenotype
Recombinant Proteins / administration & dosage*
Recombinant Proteins / genetics
Sialyltransferases / deficiency*
Sialyltransferases / genetics
Spastic Paraplegia, Hereditary / genetics
Spastic Paraplegia, Hereditary / therapy*

AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies

Authors

Affiliations

Abstract

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