Blocking the signaling of leptin — a hormone involved in appetite regulation, motor function, and behavior — eased some Rett syndrome-like symptoms in a mouse model of the disease, a study found. Data showed that reducing leptin signaling either pharmacologically or genetically in male mice with Rett-like symptoms helped…
Discussion
Practically every parent of a child with a visible disability has a story about the time someone looked crossways at the kid in the grocery store or made a thoughtless or downright hateful comment. This story is the opposite of those. My wife, Donna, and I don’t take many…
Discussion
There is one month of school left. For many families, that means countdowns, celebrations, and the final stretch of a busy school year. For me, it is a quiet reminder of all the moments my late daughter, Cammy, should be experiencing right now. Some of these milestones are exciting,…
In mouse models of Rett syndrome, disease-related changes in the MeCP2 protein were linked to widespread disruptions in histones, proteins that help package DNA and regulate gene activity within cells. That’s according to the study, “Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome,” published…
Rett syndrome is a rare genetic disorder that mostly affects females. The disease is characterized by normal early development, followed by slowed growth and a loss of motor control. Learn more about the disease here.
Most cases are caused by a mutation in the MECP2 gene. Scientists have identified mutations in CDKL5 and FOXG1 genes in those who have atypical or congenital Rett. Learn more about what causes the disease here.
Rett syndrome is associated with problems in cognitive, sensory, emotional, and motor skills, and across the nervous system that controls involuntary (or autonomic) functions. Learn more about the symptoms of the disease here.
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