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Rizzo WB. Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome. Expert Opin Orphan Drugs. 2016;4(4):395-406doi: 10.1517/21678707.2016.1154453.
Rizzo, W. B. (2016). Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome. Expert opinion on orphan drugs, 4(4), 395-406. https://doi.org/10.1517/21678707.2016.1154453
Rizzo, William B. "Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome." Expert opinion on orphan drugs vol. 4,4 (2016): 395-406. doi: https://doi.org/10.1517/21678707.2016.1154453
Rizzo WB. Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome. Expert Opin Orphan Drugs. 2016 Apr;4(4):395-406. doi: 10.1517/21678707.2016.1154453. Epub 2016 Mar 10. PMID: 27547594; PMCID: PMC4989507.
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Expert Opin Orphan Drugs. 2016 Apr;4(4):395-406. doi: 10.1517/21678707.2016.1154453. Epub 2016 Mar 10.

Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.

Expert opinion on orphan drugs

William B Rizzo

Affiliations

  1. Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.

PMID: 27547594 PMCID: PMC4989507 DOI: 10.1517/21678707.2016.1154453

Abstract

INTRODUCTION: Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disease characterized by ichthyosis, spasticity, intellectual disability and a distinctive retinopathy. It is caused by inactivating mutations in

AREAS COVERED: The clinical, pathologic and genetic features of SLS are summarized. The biochemical abnormalities caused by deficient activity of FALDH are reviewed in the context of proposed pathogenic mechanisms and potential therapeutic interventions.

EXPERT OPINION: The most promising pharmacologic approach to SLS involves blocking the formation of potentially harmful fatty aldehyde adducts using aldehyde scavenging drugs, currently in phase 2 clinical trials. Other approaches needing further investigation include: 1) ALDH-specific activator drugs and PPAR-α agonists to increase mutant FALDH activity; 2) inhibitors of the JNK phosphorylation cascade; 3) antioxidants to decrease aldehyde load; 4) dietary lipid modification; and 5) gene therapy.

Keywords: Aldehyde dehydrogenase; aldehyde scavenging drugs; fatty alcohol; fatty aldehyde; ichthyosis; intellectual disability; spasticity

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