Počet záznamů: 1
Importance of molecular cell biology investigations in human medicine in the story of the Hutchinson-Gilford progeria syndrome
- 1.0350950 - FGÚ 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
Program: LC
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
Počet záznamů: 1