Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials

Rett syndrome (RTT) is a neurological disorder that mostly affects females, with a frequency of 1 in 10,000 to 20,000 live birth cases. Symptoms include stereotyped hand movements; impaired learning, language, and communication skills; sudden loss of speech; reduced lifespan; retarded growth; distur...

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Bibliographic Details
Published in:Brain sciences 2024-02, Vol.14 (2), p.120
Main Authors: Lopes, Adele Gaspar, Loganathan, Sampath Kumar, Caliaperumal, Jayalakshmi
Format: Article
Language:English
Subjects:
Autism
Cholesterol
Clinical trials
Cognitive ability
Gene expression
Genes
Genomes
Homeostasis
Kinases
Life span
MECP2
MeCP2 protein
Metabolism
Methyl-CpG binding protein
Mutation
Nervous system
Nervous system diseases
neurodevelopmental disorders
Neurophysiology
Phenotypes
Protein binding
Proteins
Rett syndrome
Seizures
Seizures (Medicine)
Sleep
Statins
Survival
trofinetide
X chromosomes
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Summary:Rett syndrome (RTT) is a neurological disorder that mostly affects females, with a frequency of 1 in 10,000 to 20,000 live birth cases. Symptoms include stereotyped hand movements; impaired learning, language, and communication skills; sudden loss of speech; reduced lifespan; retarded growth; disturbance of sleep and breathing; seizures; autism; and gait apraxia. Pneumonia is the most common cause of death for patients with Rett syndrome, with a survival rate of 77.8% at 25 years of age. Survival into the fifth decade is typical in Rett syndrome, and the leading cause of death is cardiorespiratory compromise. Rett syndrome progression has multiple stages; however, most phenotypes are associated with the nervous system and brain. In total, 95% of Rett syndrome cases are due to mutations in the gene, an X-linked gene that encodes for the methyl CpG binding protein, a regulator of gene expression. In this review, we summarize the recent developments in the field of Rett syndrome and therapeutics targeting MECP2.
ISSN:2076-3425
2076-3425
DOI:10.3390/brainsci14020120