Article
Anaplerotic triheptanoin diet enhances mitochondrial substrate use to remodel the metabolome and improve lifespan, motor function, and sociability in MeCP2-null mice.
PloS one - 1 Jan 2014
Park Min Jung, Aja Susan, Li Qun, Degano Alicia L, Penati Judith, Zhuo Justin, Roe Charles R, Ronnett Gabriele V
Abstract excerpt
Rett syndrome (RTT) is an autism spectrum disorder (ASD) caused by mutations in the X-linked MECP2 gene that encodes methyl-CpG binding protein 2 (MeCP2). Symptoms range in severity and include psychomotor disabilities, seizures, ataxia, and intellectual disability. Symptom onset is between 6-18 months of age, a critical period of brain development that is highly energy-dependent. Notably, patients with RTT have...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.