AI Article Synopsis
- Rett syndrome (RTT) is a neurological disorder primarily affecting females, with occurrences of 1 in 10,000 to 20,000 live births, leading to symptoms like hand movement stereotypes, learning impairments, and reduced lifespan.
- The most common causes of death in RTT patients are pneumonia and cardiorespiratory issues, with a 77.8% survival rate at 25 years and potential to live into their 50s.
- 95% of RTT cases are linked to mutations in the MECP2 gene, which regulates gene expression, and recent research is focusing on therapeutics targeting this gene.
Article Abstract
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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10886956 | PMC |
| http://dx.doi.org/10.3390/brainsci14020120 | DOI Listing |
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