The pathophysiology of fragile x syndrome
Fragile X syndrome is the most common form of inherited mental retardation. The disorder is mainly caused by the expansion of the trinucleotide sequence CGG located in the 5' UTR of the FMR1 gene on the X chromosome. The abnormal expansion of this triplet leads to hypermethylation and consequen...
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| Veröffentlicht in: | Annual review of genomics and human genetics 2007-01, Vol.8 (1), p.109-129 |
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| creator | Penagarikano, Olga Mulle, Jennifer G Warren, Stephen T |
| description | Fragile X syndrome is the most common form of inherited mental retardation. The disorder is mainly caused by the expansion of the trinucleotide sequence CGG located in the 5' UTR of the FMR1 gene on the X chromosome. The abnormal expansion of this triplet leads to hypermethylation and consequent silencing of the FMR1 gene. Thus, the absence of the encoded protein (FMRP) is the basis for the phenotype. FMRP is a selective RNA-binding protein that associates with polyribosomes and acts as a negative regulator of translation. FMRP appears to play an important role in synaptic plasticity by regulating the synthesis of proteins encoded by certain mRNAs localized in the dendrite. An advancing understanding of the pathophysiology of this disorder has led to promising strategies for pharmacologic interventions. |
| doi_str_mv | 10.1146/annurev.genom.8.080706.092249 |
| format | Article |
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The disorder is mainly caused by the expansion of the trinucleotide sequence CGG located in the 5' UTR of the FMR1 gene on the X chromosome. The abnormal expansion of this triplet leads to hypermethylation and consequent silencing of the FMR1 gene. Thus, the absence of the encoded protein (FMRP) is the basis for the phenotype. FMRP is a selective RNA-binding protein that associates with polyribosomes and acts as a negative regulator of translation. FMRP appears to play an important role in synaptic plasticity by regulating the synthesis of proteins encoded by certain mRNAs localized in the dendrite. 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An advancing understanding of the pathophysiology of this disorder has led to promising strategies for pharmacologic interventions.</description><subject>Base Sequence</subject><subject>Chromosomes, Human, X - genetics</subject><subject>Fragile X Mental Retardation Protein - genetics</subject><subject>Fragile X Syndrome - etiology</subject><subject>Fragile X Syndrome - genetics</subject><subject>Fragile X Syndrome - therapy</subject><subject>Humans</subject><subject>Inheritance Patterns - physiology</subject><subject>Models, Biological</subject><subject>Molecular Sequence Data</subject><subject>Mutation - physiology</subject><subject>Neurons - physiology</subject><subject>Nucleic Acid Conformation</subject><subject>Trinucleotide Repeats - genetics</subject><issn>1527-8204</issn><issn>1545-293X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtLxDAUhYMozjj6F6QbBRetN49pkoULGXzBgJsR3IW0TWYqbVOTqdh_b8cWXLq698I55x4-hK4wJBiz9FY3TefNV7I1jasTkYAADmkCkhAmj9AcL9kyJpK-Hx92wmNBgM3QWQgfACAEg1M0w5xxLgiZo5vNzkSt3u9cu-tD6Sq37SNnI-v1tqxM9B2Fvim8q805OrG6CuZimgv09viwWT3H69enl9X9OtaMy30sheEcTM4F5CnGQmOSDnUKSZbaiIzbXGpqU2owKxjNGXDLJSMZYGvtcNMFuh5zW-8-OxP2qi5DbqpKN8Z1QaWCAsOE_iskkIohmQzCu1GYexeCN1a1vqy17xUGdYCqJqjqF6oSaoSqRqiD_3J61GW1Kf7cE0X6AwMVdqg</recordid><startdate>20070101</startdate><enddate>20070101</enddate><creator>Penagarikano, Olga</creator><creator>Mulle, Jennifer G</creator><creator>Warren, Stephen T</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20070101</creationdate><title>The pathophysiology of fragile x syndrome</title><author>Penagarikano, Olga ; Mulle, Jennifer G ; Warren, Stephen T</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-a479t-98e770ec780c6118a126293d925ae8b7fc9a3f63e14d43c407f7942b01fff3c43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Base Sequence</topic><topic>Chromosomes, Human, X - genetics</topic><topic>Fragile X Mental Retardation Protein - genetics</topic><topic>Fragile X Syndrome - etiology</topic><topic>Fragile X Syndrome - genetics</topic><topic>Fragile X Syndrome - therapy</topic><topic>Humans</topic><topic>Inheritance Patterns - physiology</topic><topic>Models, Biological</topic><topic>Molecular Sequence Data</topic><topic>Mutation - physiology</topic><topic>Neurons - physiology</topic><topic>Nucleic Acid Conformation</topic><topic>Trinucleotide Repeats - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Penagarikano, Olga</creatorcontrib><creatorcontrib>Mulle, Jennifer G</creatorcontrib><creatorcontrib>Warren, Stephen T</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Annual review of genomics and human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Penagarikano, Olga</au><au>Mulle, Jennifer G</au><au>Warren, Stephen T</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The pathophysiology of fragile x syndrome</atitle><jtitle>Annual review of genomics and human genetics</jtitle><addtitle>Annu Rev Genomics Hum Genet</addtitle><date>2007-01-01</date><risdate>2007</risdate><volume>8</volume><issue>1</issue><spage>109</spage><epage>129</epage><pages>109-129</pages><issn>1527-8204</issn><eissn>1545-293X</eissn><abstract>Fragile X syndrome is the most common form of inherited mental retardation. 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| source | Annual Reviews Complete A-Z List; MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Base Sequence Chromosomes, Human, X - genetics Fragile X Mental Retardation Protein - genetics Fragile X Syndrome - etiology Fragile X Syndrome - genetics Fragile X Syndrome - therapy Humans Inheritance Patterns - physiology Models, Biological Molecular Sequence Data Mutation - physiology Neurons - physiology Nucleic Acid Conformation Trinucleotide Repeats - genetics |
| title | The pathophysiology of fragile x syndrome |
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