Progeria causes
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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.