Progeria pathophysiology: Difference between revisions
| Line 21: | Line 21: | ||
* A single [[nucleotide]] [[substitution]] in the [[Lamin A|lamin]] A/C [[gene]] ''[[LMNA]](c.1824C>T [p.Gly608Gly])'' results in classic [[Progeria|HGPS]]<ref name="pmid154791792">{{cite journal| author=Pollex RL, Hegele RA| title=Hutchinson-Gilford progeria syndrome. | journal=Clin Genet | year= 2004 | volume= 66 | issue= 5 | pages= 375-81 | pmid=15479179 | doi=10.1111/j.1399-0004.2004.00315.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15479179 }}</ref> | * A single [[nucleotide]] [[substitution]] in the [[Lamin A|lamin]] A/C [[gene]] ''[[LMNA]](c.1824C>T [p.Gly608Gly])'' results in classic [[Progeria|HGPS]]<ref name="pmid154791792">{{cite journal| author=Pollex RL, Hegele RA| title=Hutchinson-Gilford progeria syndrome. | journal=Clin Genet | year= 2004 | volume= 66 | issue= 5 | pages= 375-81 | pmid=15479179 | doi=10.1111/j.1399-0004.2004.00315.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15479179 }}</ref> | ||
* ''[[De novo]]'' [[dominant]] [[mutation]] in the ''[[LMNA]]'' [[gene]] causes classic [[Progeria|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 | * A single [[de novo]] [[dominant]] [[mutation]] at C to T pathogenic variant at located in exon 11, C1824T of the ''[[LMNA]]'' gene results in activation of a [[Cryptic splice site|cryptic]] [[Splice site|splice]] [[donor]] site | ||
*The mutation does not change the position of glycine at 608 in protein chain | |||
*The resultant of the mutation leads to formation of short lamin A protein which is called progerin | |||
* | * | ||
Revision as of 18:11, 9 July 2019
|
Progeria Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Progeria pathophysiology On the Web |
|
American Roentgen Ray Society Images of Progeria pathophysiology |
|
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.[1]
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[2]
- De novo dominant mutation in the LMNA gene causes classic HGPS
- A single de novo dominant mutation at C to T pathogenic variant at located in exon 11, C1824T of the LMNA gene results in activation of a cryptic splice donor site
- The mutation does not change the position of glycine at 608 in protein chain
- The resultant of the mutation leads to formation of short lamin A protein which is called progerin
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
- ↑ 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.
- ↑ 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.