title: Importance of molecular cell biology investigations in human medicine in the story of the Hutchinson-Gilford progeria syndrome.
abstract: 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. In the lecture I shall overview the importance of molecular cell biology investigations that led to the discovery of the basic mechanism standing behind this rare syndrome. 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. The present endeavour how to challenge this terrible disease will be also mentioned.
authors.affiliation: Charles University in Prague, First Faculty of Medicine, Institute of Cellular Biology and Pathology, and Institute of Physiology, Academy of Sciences of the Czech Republic, v.v.i., Department of Cell Biology, Albertov 4, 128 01, Prague, Czech Republic.
authors.forename: Ivan
authors.initials: I
authors.lastname: Raška