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]]<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 location1824 of [[codon]] 608 of the ''[[LMNA]]'' gene results in activation of a [[Cryptic splice site|cryptic]] [[Splice site|splice]] [[donor]] site.
* 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
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Revision as of 18:11, 9 July 2019

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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

Genetics

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

LMNA Gene

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.

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