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Article: The pathogenic mechanisms and therapeutic strategies of hutchinson-gilford progeria syndrome

TitleThe pathogenic mechanisms and therapeutic strategies of hutchinson-gilford progeria syndrome
Authors
KeywordsGene Mutation
Hutchinson-Gilford Progeria Syndrome
Lamin A
Pathogenic Mechanisms
Therapeutic Strategies
Issue Date2007
Citation
Progress In Biochemistry And Biophysics, 2007, v. 34 n. 7, p. 687-694 How to Cite?
AbstractHutchinson-Gilford progeria syndrome (HGPS) is an early onset severe premature aging disorder due to a point mutation in LMNA gene which encodes nuclear lamin A/C. The mutation activates a cryptic splice site within exon 11 of LMNA, resulting in a 50-amino acid in-frame deletion in prelamin A. However, it is not clear how the mutation in a structural protein under the nuclear envelope could give rise to premature aging phenotypes. Recent studies showed that various abnormalities have been found in nuclear structures and functions of HGPS cells, mainly including progerin accumulation and nuclear morphology abnormalities, altered nuclear mechanical properties, changes of histone methylation patterns and epigenetic control, gene misregulation, p53 signalling activation, and increased genomic instability. Two hypotheses recently emerged in the explanation of the pathogenic mechanisms contributing to HGPS. No effective clinical intervention has been developed so far for HGPS. Several fascinating therapeutic strategies have recently been provided, such as farnesyltransferase inhibitors, antisense oligonucleotides and RNA interference. HGPS has been considered to be a model for studying the mechanisms responsible for normal aging. This study will help to elucidate the physiological functions of lamin A and nuclear envelope, together with their roles in normal aging process and diseases.
Persistent Identifierhttp://hdl.handle.net/10722/147567
ISSN
2015 Impact Factor: 0.224
2015 SCImago Journal Rankings: 0.138
References

 

DC FieldValueLanguage
dc.contributor.authorZeng, Ten_US
dc.contributor.authorLiu, XGen_US
dc.contributor.authorZhou, ZJen_US
dc.date.accessioned2012-05-29T06:04:40Z-
dc.date.available2012-05-29T06:04:40Z-
dc.date.issued2007en_US
dc.identifier.citationProgress In Biochemistry And Biophysics, 2007, v. 34 n. 7, p. 687-694en_US
dc.identifier.issn1000-3282en_US
dc.identifier.urihttp://hdl.handle.net/10722/147567-
dc.description.abstractHutchinson-Gilford progeria syndrome (HGPS) is an early onset severe premature aging disorder due to a point mutation in LMNA gene which encodes nuclear lamin A/C. The mutation activates a cryptic splice site within exon 11 of LMNA, resulting in a 50-amino acid in-frame deletion in prelamin A. However, it is not clear how the mutation in a structural protein under the nuclear envelope could give rise to premature aging phenotypes. Recent studies showed that various abnormalities have been found in nuclear structures and functions of HGPS cells, mainly including progerin accumulation and nuclear morphology abnormalities, altered nuclear mechanical properties, changes of histone methylation patterns and epigenetic control, gene misregulation, p53 signalling activation, and increased genomic instability. Two hypotheses recently emerged in the explanation of the pathogenic mechanisms contributing to HGPS. No effective clinical intervention has been developed so far for HGPS. Several fascinating therapeutic strategies have recently been provided, such as farnesyltransferase inhibitors, antisense oligonucleotides and RNA interference. HGPS has been considered to be a model for studying the mechanisms responsible for normal aging. This study will help to elucidate the physiological functions of lamin A and nuclear envelope, together with their roles in normal aging process and diseases.en_US
dc.languageengen_US
dc.relation.ispartofProgress in Biochemistry and Biophysicsen_US
dc.subjectGene Mutationen_US
dc.subjectHutchinson-Gilford Progeria Syndromeen_US
dc.subjectLamin Aen_US
dc.subjectPathogenic Mechanismsen_US
dc.subjectTherapeutic Strategiesen_US
dc.titleThe pathogenic mechanisms and therapeutic strategies of hutchinson-gilford progeria syndromeen_US
dc.typeArticleen_US
dc.identifier.emailZhou, ZJ:zhongjun@hkucc.hku.hken_US
dc.identifier.authorityZhou, ZJ=rp00503en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.scopuseid_2-s2.0-35348957950en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-35348957950&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume34en_US
dc.identifier.issue7en_US
dc.identifier.spage687en_US
dc.identifier.epage694en_US
dc.publisher.placeChinaen_US
dc.identifier.scopusauthoridZeng, T=36787681900en_US
dc.identifier.scopusauthoridLiu, XG=26643623200en_US
dc.identifier.scopusauthoridZhou, ZJ=8631856300en_US

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