Progeria pathophysiology: Difference between revisions
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* A single [[nucleotide]] [[substitution]] in the [[Lamin A|lamin]] A/C [[gene]] ''[[LMNA]](c.1824C>T [p.Gly608Gly])'' results in classic [[Progeria|HGPS]] | * A single [[nucleotide]] [[substitution]] in the [[Lamin A|lamin]] A/C [[gene]] ''[[LMNA]](c.1824C>T [p.Gly608Gly])'' results in classic [[Progeria|HGPS]] | ||
* ''[[De novo]]'' [[dominant]] [[mutation]] in the ''[[LMNA]]'' [[gene]] causes classic HGPS | * ''[[De novo]]'' [[dominant]] [[mutation]] in the ''[[LMNA]]'' [[gene]] causes classic [[Progeria|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. | * 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 site|cryptic]] [[Splice site|splice]] [[donor]] site. | ||
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Revision as of 16:32, 9 July 2019
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Progeria Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Progeria pathophysiology On the Web |
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American Roentgen Ray Society Images of Progeria pathophysiology |
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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
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].