Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Progeria causes
Introduction
Overview
Overview
The most common cause of Hutchinson-Gilford progeria syndrome (HGPS) is mutation in LMNA gene.
Causes
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
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]