Number of the records: 1
Importance of molecular cell biology investigations in human medicine in the story of the Hutchinson-Gilford progeria syndrome
- 1.
SYSNO ASEP 0350950 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Ostatní články Title Importance of molecular cell biology investigations in human medicine in the story of the Hutchinson-Gilford progeria syndrome Author(s) Raška, Ivan (FGU-C) Source Title Interdisciplinary Toxicology - ISSN 1337-6853
Roč. 3, č. 3 (2010), s. 89-93Number of pages 5 s. Language eng - English Country SK - Slovakia Keywords laminopathies ; Hutchinson-Gilford progeria syndrome ; progerin Subject RIV EA - Cell Biology CEZ AV0Z50110509 - FGU-C (2005-2011) DOI 10.2478/v10102-010-0018-y Annotation Ranged among laminopathies, Hutchinson-Gilford progeria syndrome is a syndrome that involves premature aging, leading usually to death at the age between 10 to 14 years predominatly due to a myocardial infarction or a stroke. The genetic basis in most cases is a mutation at the nucleotide position 1824 of the lamin A gene. At this position, cytosine is substituted for thymine so that a cryptic splice site within the precursor mRNA for lamin A is generated. This results in a production of abnormal lamin A, termed progerin, its presence in cells having a deleterious dominant effect. Depending on the cell type and tissue, progerin induces a pleiotropy of defects that vary in different tissues Workplace Institute of Physiology Contact Lucie Trajhanová, lucie.trajhanova@fgu.cas.cz, Tel.: 241 062 400 Year of Publishing 2011
Number of the records: 1