Research Progress of the Correlation between Caveolin and Unexpected Sudden Cardiac Death / 法医学杂志

D ue to the negative autopsy and w ithout cardiac structural abnorm alities, unexpected sudden cardiac death (U SC D ) is alw ays a tough issue for forensic pathological expertise. U SC D m ay be asso-ciated w ith parts of fatal arrhythm ic diseases. T hese arrhythm ic diseases m ay be caused by disorders of cardiac ion channels or channel-related proteins. C aveolin can com bine w ith m ultiple m yocardial ion channel proteins through its scaffolding regions and plays an im portant role in m aintaining the depolar-ization and repolarization of cardiac action potential. W hen the structure and function of caveolin are af-fected by gene m utations or abnorm al protein expression, the functions of the regulated ion channels are correspondingly im paired, w hich leads to the occurrence of m ultiple channelopathies, arrhythm ia or even sudden cardiac death. It is im portant to study the effects of caveolin on the functions of ion channels for exploring the m echanism s of m alignant arrhythm ia and sudden cardiac death.

Correlation between Genetic Variants and Polymorphism of Caveolin and Sudden Unexplained Death / 法医学杂志

Objective T o explore the genetic variation sites of caveolin (C A V ) and their correlation w ith sudden unexplained death (SU D ).Methods The blood sam ples w ere collected from SU D group (71 cases), coronary artery disease (C A D ) group (62 cases) and control group (60 cases), respectively. T he genom e D N A w ere extracted and sequencing w as perform ed directly by am plifying gene coding region and exon-intron splicing region of CAV1 and CAV3 using PC R . T he type of heritable variation of CVA w as con-firm ed and statistical analysis w as perform ed. Results A total of 4 variation sites that m aybe significa-tive w ere identified in SU D group, and tw o w ere new found w hich w ere CAV1: c.45C>T (T 15T ) and CAV1:c.512G>A (R 171H ), and tw o w ere SN P loci w hich w ere CAV1:c.246C>T (rs35242077) and CAV3:c.99C>T (rs1008642) and had significant difference (P<0.05) in allele and genotype frequencies betw een SU D and control groups. Forem entioned variation sites w ere not found in C A D group. Conclu-sion T he variants of CAV1 and CAV3 m ay be correlated w ith a part of SU D group.