Počet záznamů: 1

Importance of molecular cell biology investigations in human medicine in the story of the Hutchinson-Gilford progeria syndrome

  1. 1.
    0350950 - FGU-C 2011 RIV SK eng J - Článek v odborném periodiku
    Raška, Ivan
    Importance of molecular cell biology investigations in human medicine in the story of the Hutchinson-Gilford progeria syndrome.
    Interdisciplinary Toxicology. Roč. 3, č. 3 (2010), s. 89-93 ISSN 1337-6853
    Grant ostatní: GA MŠk(CZ) LC535
    Výzkumný záměr: CEZ:AV0Z50110509
    Klíčová slova: laminopathies * Hutchinson-Gilford progeria syndrome * progerin
    Kód oboru RIV: EA - Morfologické obory a cytologie

    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
    Trvalý link: http://hdl.handle.net/11104/0190808