Abstract
Bisphosphonates and MeCP2 Deficiency: Cellular Studies and Clinical Application in Rett Syndrome
Highlights
Rett syndrome (RTT) is a rare X-linked neurodevelopmental disorder primarily affecting females
In this Short Note, we assess what is known about the structural deficits in bone in Rett syndrome (RTT), a rare x-linked neurodevelopmental disorder and in mouse models of RTT and provide a rationale for the treatment of bone fragility observed in this disorder
RTT is caused by mutations in a gene that encodes for methyl CpG protein binding protein 2 (MeCP2), which can act as an inhibitor or activator of gene transcription
Summary
Rett syndrome (RTT) is a rare X-linked neurodevelopmental disorder primarily affecting females. We review the literature concerning bone deficits in RTT and in mouse models of MeCP2 deficiency and the effects of the bisphosphonate zoledronic acid on these bone alterations. Among the first reports of bone structural abnormalities was a 1995 radiological study that found reduced bone density in the hands of 86% of 17 girls with RTT [11].
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