Progeria pathophysiology
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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
It is thought that Hutchinson-Gilford progeria is the result due to mutation in LMNA gene.
Pathophysiology
Physiology
The normal physiology of [name of process] can be understood as follows:
Pathogenesis
- It is understood that Hutchinson-Gilford progeria is the result due to mutation in LMNA gene.
Genetics
Genes involved in the pathogenesis of Hutchinson-Gilford progeria syndrome (HGPS) include:
LMNA Gene
- A single nucleotide substitution in the lamin A/C gene LMNA(c.1824C>T [p.Gly608Gly]) results in classic HGPS
- De novo dominant mutation in the LMNA gene causes classic HGPS
- A single de novo dominant mutation at C to T pathogenic variant at location1824 of codon 608 of the LMNA gene results in activation of a cryptic splice donor site.
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].