Rebalancing polyamine levels to treat Snyder–Robinson syndrome

Snyder–Robinson syndrome (SRS) is a rare genetic disorder characterized by intellectual disability and delayed development beginning early in childhood. It was first described in a single family in 1969 as a sex‐linked disorder (Snyder & Robinson, 1969) and has since been only identified in less...

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Bibliographic Details
Published in:EMBO molecular medicine 2023-11, Vol.15 (11), p.e18506-3
Main Author: Gilmour, Susan K
Format: Article
Language:English
Subjects:
Biomedicine
Biosynthesis
Cell growth
Children
EMBO16
EMBO21
Genetic disorders
Intellectual disabilities
Kyphosis
Metabolism
Metabolites
Molecular Medicine
Mutation
Nervous system
Neurological disorders
News & Views
Osteoporosis
Patients
Polyamines
Ratios
Scoliosis
Seizures
Sex linkage
Spermine
Spermine synthase
Symptom management
Views
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Description
Summary:Snyder–Robinson syndrome (SRS) is a rare genetic disorder characterized by intellectual disability and delayed development beginning early in childhood. It was first described in a single family in 1969 as a sex‐linked disorder (Snyder & Robinson, 1969) and has since been only identified in less than 100 individuals worldwide. Inherited in an X‐linked recessive pattern, SRS has only been identified in males thus far. Snyder–Robinson syndrome primarily affects the nervous system and skeletal tissues and is caused by loss‐of‐function mutations in the gene encoding spermine synthase (SMS), a polyamine biosynthesis enzyme. Affected males display a collection of clinical features including intellectual disability ranging from mild to profound, speech and vision impairment, osteoporosis, hypotonia, and increasing loss of muscle tissue with age, kyphoscoliosis, seizures, and distinctive facial features including a prominent lower lip and facial asymmetry. Currently, there is no cure or treatment for this debilitating disorder aside from symptom management. Graphical Abstract S. Gilmour discusses the study by Stewart et al , in this issue of EMBO Mol Med , that proposes the use of 2‐difluoromethylornithine (DFMO) to rebalance the relative levels of the polyamines spermidine and spermine in order to treat Snyder–Robinson syndrome patients.
ISSN:1757-4676
1757-4684
1757-4684
DOI:10.15252/emmm.202318506