(R, R)-1, 12-Dimethylspermine can mitigate abnormal spermidine accumulation in Snyder–Robinson syndrome

TM Stewart, M Khomutov, JR Foley, X Guo… - Journal of Biological …, 2020 - ASBMB
Snyder–Robinson syndrome (SRS) is an X-linked intellectual disability syndrome caused by
a loss-of-function mutation in the spermine synthase (SMS) gene. Primarily affecting males,
the main manifestations of SRS include osteoporosis, hypotonic stature, seizures, cognitive
impairment, and developmental delay. Because there is no cure for SRS, treatment plans
focus on alleviating symptoms rather than targeting the underlying causes. Biochemically,
the cells of individuals with SRS accumulate excess spermidine, whereas spermine levels …