Progeria pathophysiology

Jump to navigation Jump to search

Progeria Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Progeria from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Progeria pathophysiology On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Progeria pathophysiology

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Progeria pathophysiology

CDC on Progeria pathophysiology

Progeria pathophysiology in the news

Blogs on Progeria pathophysiology

Directions to Hospitals Treating Psoriasis

Risk calculators and risk factors for Progeria pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

It is thought that Hutchinson-Gilford progeria is the result due to mutation in LMNA gene.

Pathophysiology

Pathogenesis

Genetics

Genes involved in the pathogenesis of Hutchinson-Gilford progeria syndrome (HGPS) include:[2]

LMNA Gene

Classic Hutchinson-Gilford progeria syndrome

Associated Conditions

Conditions associated with [disease name] include:

  • [Condition 1]
  • [Condition 2]
  • [Condition 3]

Gross Pathology

On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Microscopic Pathology

On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

References

  1. Pollex RL, Hegele RA (2004). "Hutchinson-Gilford progeria syndrome". Clin Genet. 66 (5): 375–81. doi:10.1111/j.1399-0004.2004.00315.x. PMID 15479179.
  2. Pollex RL, Hegele RA (2004). "Hutchinson-Gilford progeria syndrome". Clin Genet. 66 (5): 375–81. doi:10.1111/j.1399-0004.2004.00315.x. PMID 15479179.
  3. Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L; et al. (2003). "Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome". Nature. 423 (6937): 293–8. doi:10.1038/nature01629. PMID 12714972.
  4. Decker ML, Chavez E, Vulto I, Lansdorp PM (2009). "Telomere length in Hutchinson-Gilford progeria syndrome". Mech Ageing Dev. 130 (6): 377–83. doi:10.1016/j.mad.2009.03.001. PMID 19428457.
  5. Pollex RL, Hegele RA (2004). "Hutchinson-Gilford progeria syndrome". Clin Genet. 66 (5): 375–81. doi:10.1111/j.1399-0004.2004.00315.x. PMID 15479179.
  6. Cao H, Hegele RA (2003). "LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)". J Hum Genet. 48 (5): 271–4. doi:10.1007/s10038-003-0025-3. PMID 12768443.
  7. Madej-Pilarczyk A (2006). "[Hutchinson-Gilford progeria in the light of contemporary genetics]". Med Wieku Rozwoj. 10 (1 Pt 2): 355–62. PMID 17028399.
  8. Glynn MW, Glover TW (2005). "Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition". Hum Mol Genet. 14 (20): 2959–69. doi:10.1093/hmg/ddi326. PMID 16126733.
  9. Csoka AB, English SB, Simkevich CP, Ginzinger DG, Butte AJ, Schatten GP; et al. (2004). "Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis". Aging Cell. 3 (4): 235–43. doi:10.1111/j.1474-9728.2004.00105.x. PMID 15268757.
  10. Allsopp RC, Vaziri H, Patterson C, Goldstein S, Younglai EV, Futcher AB; et al. (1992). "Telomere length predicts replicative capacity of human fibroblasts". Proc Natl Acad Sci U S A. 89 (21): 10114–8. doi:10.1073/pnas.89.21.10114. PMC 50288. PMID 1438199.

Template:WH Template:WS