Rett Syndrome: A Mitochondrial Dysfunction?
نویسندگان
چکیده
منابع مشابه
Subclinical myocardial dysfunction in Rett syndrome.
AIMS Rett syndrome (RTT) is a rare neurodevelopmental disorder frequently linked to methyl-CpG-binding protein 2 (MeCP2) gene mutations. RTT is associated with a 300-fold increased risk of sudden cardiac death. Rhythm abnormalities and cardiac dysautonomia do not to fully account for cardiac mortality. Conversely, heart function in RTT has not been explored to date. Recent data indicate a previ...
متن کاملDysregulation of glutamine transporter SNAT1 in Rett syndrome microglia: a mechanism for mitochondrial dysfunction and neurotoxicity.
Rett syndrome (RTT) is an autism spectrum disorder caused by loss-of-function mutations in the gene encoding MeCP2, an epigenetic modulator that binds the methyl CpG dinucleotide in target genes to regulate transcription. Previously, we and others reported a role of microglia in the pathophysiology of RTT. To understand the mechanism of microglia dysfunction in RTT, we identified a MeCP2 target...
متن کاملMitochondrial Dysfunction in the Pathogenesis of Rett Syndrome: Implications for Mitochondria-Targeted Therapies
First described over 50 years ago, Rett syndrome (RTT) is a neurodevelopmental disorder caused primarily by mutations of the X-linked MECP2 gene. RTT affects predominantly females, and has a prevalence of roughly 1 in every 10,000 female births. Prior to the discovery that mutations of MECP2 are the leading cause of RTT, there were suggestions that RTT could be a mitochondrial disease. In fact,...
متن کاملMeCP2 dysfunction in Rett syndrome and related disorders.
Rett syndrome, a neurodevelopmental disorder caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2), is a leading cause of mental retardation with autistic features in females. MECP2 mutations have also been identified in individuals with a variety of clinical syndromes, including mild learning-disability in females, neonatal encephalopathy in males, and psychiat...
متن کاملNeurobiology of Disease Dysregulation of Glutamine Transporter SNAT1 in Rett Syndrome Microglia: A Mechanism for Mitochondrial Dysfunction and Neurotoxicity
Lee-Way Jin,1,2 Makoto Horiuchi,1 Heike Wulff,3 Xiao-Bo Liu,1 Gino A. Cortopassi,4 Jeffrey D. Erickson,5 and Izumi Maezawa1,2 1Department of Pathology and Laboratory Medicine and 2M.I.N.D. (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California Davis Medical Center, Sacramento, California 95817, Departments of 3Pharmacology and 4Molecular Biosciences, Univers...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1993
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-7-6-11