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.

The research progress of the role of NUP155 in atrial fibrillation and primary arrhythmic sudden cardiac death / 中国法医学杂志

NUP155 is a kind of important nucleoporins on the nuclear pore complex which plays an important role in the process of mediating macromolecular substances passing in and out of the nucleus. Primary cardiac arrhythmia is one of the important reasons to lead to sudden death, mainly due to the mutations of the gene which codes ion channel on the myocardial cell membrane, so it's also known as "cardiac ion channel disease".NUP155 is the first found non-ion-channel gene that its mutations can lead to primary cardiac arrhythmias and sudden cardiac death. This article mainly focuses on the structure and biological function of NUP155 and its relationship with Primary arrhythmic 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.