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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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| Published in: | Brain sciences 2024-02, Vol.14 (2), p.120 |
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| creator | Lopes, Adele Gaspar Loganathan, Sampath Kumar Caliaperumal, Jayalakshmi |
| description | 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. |
| doi_str_mv | 10.3390/brainsci14020120 |
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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.</description><subject>Autism</subject><subject>Cholesterol</subject><subject>Clinical trials</subject><subject>Cognitive ability</subject><subject>Gene expression</subject><subject>Genes</subject><subject>Genomes</subject><subject>Homeostasis</subject><subject>Kinases</subject><subject>Life span</subject><subject>MECP2</subject><subject>MeCP2 protein</subject><subject>Metabolism</subject><subject>Methyl-CpG binding protein</subject><subject>Mutation</subject><subject>Nervous system</subject><subject>Nervous system diseases</subject><subject>neurodevelopmental disorders</subject><subject>Neurophysiology</subject><subject>Phenotypes</subject><subject>Protein binding</subject><subject>Proteins</subject><subject>Rett syndrome</subject><subject>Seizures</subject><subject>Seizures (Medicine)</subject><subject>Sleep</subject><subject>Statins</subject><subject>Survival</subject><subject>trofinetide</subject><subject>X chromosomes</subject><issn>2076-3425</issn><issn>2076-3425</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNptkklvFDEQhVsIRKKQOydkiQuXCWWXlza30ShApCBQEs6W28vgUU872D2H_Ps4TBaIsA9VKn3vlZfqurcUThA1fByKTVN1iXJgQBm86A4ZKLlAzsTLv_KD7rjWDbTVA6CA190B9qip1OKwW16EeSaXN5MveRuInTyZfwVykcdAciTfTlc_2CdymdaTHdO0JnMmq5YkZ0dyVZId65vuVWwhHN_Ho-7n59Or1dfF-fcvZ6vl-cIJYPOCD1Yr5m0ImjEVo6BDFNgrCrIPUiqhrPUQI-Mh9BG0QokDjy7KPjIvOR51Z3tfn-3GXJe0teXGZJvMn0Iua2PLnNwYjKOaoaSBR1TcM6e1B0RkQUgeubDN68Pe67rk37tQZ7NN1YVxtFPIu2qQMsqUBNo39P0zdJN3pb1GNUwjCBSK0SdqbVv_NMU8F-vuTM1S9RxQgRSNOvkP1bYP2-TyFGJq9X8EsBe4kmstIT7em4K5GwLzfAia5N39eXfDNvhHwcOX4y37kqi-</recordid><startdate>20240201</startdate><enddate>20240201</enddate><creator>Lopes, Adele Gaspar</creator><creator>Loganathan, Sampath Kumar</creator><creator>Caliaperumal, Jayalakshmi</creator><general>MDPI AG</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7XB</scope><scope>8FE</scope><scope>8FH</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M2O</scope><scope>M7P</scope><scope>MBDVC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>7X8</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0001-6071-269X</orcidid><orcidid>https://orcid.org/0009-0007-1366-5553</orcidid></search><sort><creationdate>20240201</creationdate><title>Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials</title><author>Lopes, Adele Gaspar ; Loganathan, Sampath Kumar ; Caliaperumal, Jayalakshmi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c502t-4ba972daee9227ff51bf53871068e66757aad0ff24ee8f097363b4fcf68f2d643</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Autism</topic><topic>Cholesterol</topic><topic>Clinical trials</topic><topic>Cognitive ability</topic><topic>Gene expression</topic><topic>Genes</topic><topic>Genomes</topic><topic>Homeostasis</topic><topic>Kinases</topic><topic>Life span</topic><topic>MECP2</topic><topic>MeCP2 protein</topic><topic>Metabolism</topic><topic>Methyl-CpG binding protein</topic><topic>Mutation</topic><topic>Nervous system</topic><topic>Nervous system diseases</topic><topic>neurodevelopmental disorders</topic><topic>Neurophysiology</topic><topic>Phenotypes</topic><topic>Protein binding</topic><topic>Proteins</topic><topic>Rett syndrome</topic><topic>Seizures</topic><topic>Seizures (Medicine)</topic><topic>Sleep</topic><topic>Statins</topic><topic>Survival</topic><topic>trofinetide</topic><topic>X chromosomes</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lopes, Adele Gaspar</creatorcontrib><creatorcontrib>Loganathan, Sampath Kumar</creatorcontrib><creatorcontrib>Caliaperumal, Jayalakshmi</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>ProQuest research library</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Publicly Available Content Database (Proquest) (PQ_SDU_P3)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>DOAJÂ Directory of Open Access Journals</collection><jtitle>Brain sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lopes, Adele Gaspar</au><au>Loganathan, Sampath Kumar</au><au>Caliaperumal, Jayalakshmi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials</atitle><jtitle>Brain sciences</jtitle><addtitle>Brain Sci</addtitle><date>2024-02-01</date><risdate>2024</risdate><volume>14</volume><issue>2</issue><spage>120</spage><pages>120-</pages><issn>2076-3425</issn><eissn>2076-3425</eissn><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
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| ispartof | Brain sciences, 2024-02, Vol.14 (2), p.120 |
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| 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 |
| title | Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials |
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