Kužela seminar series

Wed 1 Dec. 2010, 12:00
CH1-222

Title: Architektura buněčného jádra a nemoc
Speaker: Ivan Raška, Univerzita Karlova a Fyziologický ústav AVČR

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 predominantly 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.