Progeria causes: Difference between revisions
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{{CMG}}; {{AE}} {{VKG}} | {{CMG}}; {{AE}} {{VKG}} | ||
==Overview== | ==Overview== | ||
The most common cause of | The most common cause of [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is [[mutation]] in ''[[LMNA]]'' [[gene]]. | ||
==Causes== | ==Causes== | ||
===Common Causes=== | ===Common Causes=== | ||
Common causes of Hutchinson-Gilford progeria syndrome (HGPS) may include:<ref name="pmid28811278">{{cite journal| author=Elzeneini E, Wickström SA| title=Lipodystrophic laminopathy: Lamin A mutation relaxes chromatin architecture to impair adipogenesis. | journal=J Cell Biol | year= 2017 | volume= 216 | issue= 9 | pages= 2607-2610 | pmid=28811278 | doi=10.1083/jcb.201707090 | pmc=5584192 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28811278 }}</ref><ref name="pmid24384368">{{cite journal| author=Guénantin AC, Briand N, Bidault G, Afonso P, Béréziat V, Vatier C et al.| title=Nuclear envelope-related lipodystrophies. | journal=Semin Cell Dev Biol | year= 2014 | volume= 29 | issue= | pages= 148-57 | pmid=24384368 | doi=10.1016/j.semcdb.2013.12.015 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24384368 }}</ref><ref name="pmid28751304">{{cite journal| author=Oldenburg A, Briand N, Sørensen AL, Cahyani I, Shah A, Moskaug JØ et al.| title=A lipodystrophy-causing lamin A mutant alters conformation and epigenetic regulation of the anti-adipogenic MIR335 locus. | journal=J Cell Biol | year= 2017 | volume= 216 | issue= 9 | pages= 2731-2743 | pmid=28751304 | doi=10.1083/jcb.201701043 | pmc=5584164 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28751304 }}</ref><ref name="pmid25482195">{{cite journal| author=Camozzi D, Capanni C, Cenni V, Mattioli E, Columbaro M, Squarzoni S et al.| title=Diverse lamin-dependent mechanisms interact to control chromatin dynamics. Focus on laminopathies. | journal=Nucleus | year= 2014 | volume= 5 | issue= 5 | pages= 427-40 | pmid=25482195 | doi=10.4161/nucl.36289 | pmc=4164485 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25482195 }}</ref> | Common causes of [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) may include:<ref name="pmid28811278">{{cite journal| author=Elzeneini E, Wickström SA| title=Lipodystrophic laminopathy: Lamin A mutation relaxes chromatin architecture to impair adipogenesis. | journal=J Cell Biol | year= 2017 | volume= 216 | issue= 9 | pages= 2607-2610 | pmid=28811278 | doi=10.1083/jcb.201707090 | pmc=5584192 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28811278 }}</ref><ref name="pmid24384368">{{cite journal| author=Guénantin AC, Briand N, Bidault G, Afonso P, Béréziat V, Vatier C et al.| title=Nuclear envelope-related lipodystrophies. | journal=Semin Cell Dev Biol | year= 2014 | volume= 29 | issue= | pages= 148-57 | pmid=24384368 | doi=10.1016/j.semcdb.2013.12.015 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24384368 }}</ref><ref name="pmid28751304">{{cite journal| author=Oldenburg A, Briand N, Sørensen AL, Cahyani I, Shah A, Moskaug JØ et al.| title=A lipodystrophy-causing lamin A mutant alters conformation and epigenetic regulation of the anti-adipogenic MIR335 locus. | journal=J Cell Biol | year= 2017 | volume= 216 | issue= 9 | pages= 2731-2743 | pmid=28751304 | doi=10.1083/jcb.201701043 | pmc=5584164 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28751304 }}</ref><ref name="pmid25482195">{{cite journal| author=Camozzi D, Capanni C, Cenni V, Mattioli E, Columbaro M, Squarzoni S et al.| title=Diverse lamin-dependent mechanisms interact to control chromatin dynamics. Focus on laminopathies. | journal=Nucleus | year= 2014 | volume= 5 | issue= 5 | pages= 427-40 | pmid=25482195 | doi=10.4161/nucl.36289 | pmc=4164485 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25482195 }}</ref> | ||
*Mutation in ''LMNA'' gene which results in production of abnormal protein laminin A which is also called progerin | *Mutation in ''[[LMNA]]'' gene which results in production of abnormal [[protein]] [[Laminin|laminin A]] which is also called [[progerin]] | ||
*LMNA gene plays a very crucial role in the following: | *[[LMNA]] gene plays a very crucial role in the following: | ||
**Membrane which surrounds the cell’s nucleus and stabilizes the nuclear membrane. | **[[Membrane]] which surrounds the cell’s [[nucleus]] and stabilizes the [[nuclear membrane]]. | ||
*The location of the LMNA gene is on chromosome 1. | *The location of the [[LMNA]] gene is on [[chromosome 1]]. | ||
===Genetic Causes=== | === Less Common Causes === | ||
*Hutchinson-Gilford progeria syndrome (HGPS) is caused by a mutation in the LMNA gene. | |||
Less common causes of [[Hutchinson-Gilford progeria syndrome]] ([[Progeria|HGPS]]) include: | |||
* [[ZMPSTE24]] gene [[mutation]]<ref name="pmid17076270">{{cite journal| author=De Sandre-Giovannoli A, Lévy N| title=Altered splicing in prelamin A-associated premature aging phenotypes. | journal=Prog Mol Subcell Biol | year= 2006 | volume= 44 | issue= | pages= 199-232 | pmid=17076270 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17076270 }}</ref> | |||
=== Genetic Causes === | |||
*[[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is caused by a [[mutation]] in the [[LMNA]] [[gene]]. | |||
===Causes by Organ System=== | ===Causes by Organ System=== | ||
Latest revision as of 14:58, 9 August 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
The most common cause of Hutchinson-Gilford progeria syndrome (HGPS) is mutation in LMNA gene.
Causes
Common Causes
Common causes of Hutchinson-Gilford progeria syndrome (HGPS) may include:[1][2][3][4]
- Mutation in LMNA gene which results in production of abnormal protein laminin A which is also called progerin
- LMNA gene plays a very crucial role in the following:
- Membrane which surrounds the cell’s nucleus and stabilizes the nuclear membrane.
- The location of the LMNA gene is on chromosome 1.
Less Common Causes
Less common causes of Hutchinson-Gilford progeria syndrome (HGPS) include:
Genetic Causes
- Hutchinson-Gilford progeria syndrome (HGPS) is caused by a mutation in the LMNA gene.
Causes by Organ System
| Environmental | No underlying causes |
| Gastroenterologic | No underlying causes |
| Genetic | Mutation in LMNA gene |
| Hematologic | No underlying causes |
| Iatrogenic | No underlying causes |
| Infectious Disease | No underlying causes |
| Musculoskeletal/Orthopedic | No underlying causes |
| Neurologic | No underlying causes |
| Nutritional/Metabolic | No underlying causes |
| Obstetric/Gynecologic | No underlying causes |
| Oncologic | LMNA gene mutation |
| Ophthalmologic | No underlying causes |
| Overdose/Toxicity | No underlying causes |
| Psychiatric | No underlying causes |
| Pulmonary | No underlying causes |
| Renal/Electrolyte | No underlying causes |
| Rheumatology/Immunology/Allergy | No underlying causes |
| Sexual | No underlying causes |
| Trauma | No underlying causes |
| Urologic | No underlying causes |
| Miscellaneous | No underlying causes |
References
- ↑ Elzeneini E, Wickström SA (2017). "Lipodystrophic laminopathy: Lamin A mutation relaxes chromatin architecture to impair adipogenesis". J Cell Biol. 216 (9): 2607–2610. doi:10.1083/jcb.201707090. PMC 5584192. PMID 28811278.
- ↑ Guénantin AC, Briand N, Bidault G, Afonso P, Béréziat V, Vatier C; et al. (2014). "Nuclear envelope-related lipodystrophies". Semin Cell Dev Biol. 29: 148–57. doi:10.1016/j.semcdb.2013.12.015. PMID 24384368.
- ↑ Oldenburg A, Briand N, Sørensen AL, Cahyani I, Shah A, Moskaug JØ; et al. (2017). "A lipodystrophy-causing lamin A mutant alters conformation and epigenetic regulation of the anti-adipogenic MIR335 locus". J Cell Biol. 216 (9): 2731–2743. doi:10.1083/jcb.201701043. PMC 5584164. PMID 28751304.
- ↑ Camozzi D, Capanni C, Cenni V, Mattioli E, Columbaro M, Squarzoni S; et al. (2014). "Diverse lamin-dependent mechanisms interact to control chromatin dynamics. Focus on laminopathies". Nucleus. 5 (5): 427–40. doi:10.4161/nucl.36289. PMC 4164485. PMID 25482195.
- ↑ De Sandre-Giovannoli A, Lévy N (2006). "Altered splicing in prelamin A-associated premature aging phenotypes". Prog Mol Subcell Biol. 44: 199–232. PMID 17076270.