Gene Detection of GPD1-L and the Association with Sudden Unexplained Death Syndrome in Young Adults / 法医学杂志

Objective To analyze the variations of glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) and address the association with sudden m anhood death syndrom e (SMDS). Methods The genom ic DNA was extracted from blood sam ples of the SMDS group and the norm alcontrolgroup.The exons, exon-in-tron boundaries and 3′-U TRs of coding region of GPD1-L w ere PCRam plified and DNAsequenced di-rectly to confirm the types of variations. The genotype frequency and allele frequency w ere analyzed statistically. Results There w ere tw ovariants in the SMDS group, c.465C>Tand c.*18G>T, the latter existed certain degree difference of genotype distribution and allele frequency betw een the SMDS group and the control group, but there was no statistically significant (P>0.05). Conclusion The relation be-tw een gene m utation of GPD1-L and the occurrence of Chinese SMDS deserves a further research.

Pathogenesis of Sudden Manhood Death Syndrome / 대한법의학회지

Sudden manhood death syndrome (SMDS) is a disorder found in southeast Asia, particularly Thailand, Philippines and Japan, which causes sudden cardiac death during sleep. In Korea, SMDS cases have been occasionally encountered in forensic autopsy practice. However, the incidence and pathogenesis has been rarely studied. This study to review chronologically the proposed pathogenesis of SMDS; pathology of cardiac conduction system, sleeping and breathing disorder, K+ and thiamine deficiency, mental stress, testosterone, hyperlipidemia, and narrow circumference of coronary artery. Brugada syndrome and SMDS are phenotypically, genetically and functionally the same disorder and Brugada syndrome has been a subject of intensive study since its early description in 1992. While Brugada syndrome is an inherited cardiac disorder caused by mutations in the SCN5A gene encoding the cardiac sodium channel alpha-subunit. less than 20% of its patients are known to be associated with SCN5A mutations. Moreover, the postmortem molecular screening of SCN5A mutations on formalin fixed paraffin embbeded cardiac tissues from SMDS cases has not been rewarding due to technical problems. The role of structural heart disease and sodium channel dysfunction in the induction of electrical instability in SMDS and Brugada syndrome is still debatable.

Study on the changes of actin, serum albnmin, fibronectin in cardiac cells and cardiac conducting system in cases with sudden manhood death syndrome / 中国法医学杂志

Objective To investigate the changes of actin (HHF35), serum albumin (A1), fibronectin (Fn) in cardiac cells and cardiac conducting sysytem (CCS) in order to probe into postmortem diagnosis of sudden manhood death syndrome (SMDS). Methods Immunohistochemical detections of actin, serum albumin and fibronectin (Fn) in the cardiac cells and CCS were performed by S-P method in cases with SMDS and cases died from coronary heart disease and non-cardiovascular diseases which were used as the control. Results Of the 22 cases with SMDS, 17 were found of actin-negative staining, 18 serum albumin-positive and 15 Fn-positive staining with evident pathological lesions in CCS in 8 cases. Conclusion It is suggested that SMDS is associated with early myocardial ischemia or infarction, which results in abnormality in actin, serum albumin and fibronectin (Fn) in the cardiac cells and CCS.

Immunohistochemical study on ANP in the atria of sudden manhood death syndrome / 中国法医学杂志

For the purpose of diagnosis of sudden manhood death syndrome, immu- nohistochemical study of ANP was performed in right atria of 10 cases of sudden manhood death syndrome (SMDS) and 10 cases of noncardiac death controls with LSAB-method. It was found that the ANP granulus in right atria of SMDS were obviously depleted, compared with that in the control groups. The results showed that depletion of ANP granules in atria plays an important role in the causes of death of SMDS. This experiment also provides a new approach for studying the causes of SMDS.

Dependence analysis between sudden manhood death syndrome and mutation of SCN5A / 中国法医学杂志

In resent years, the accounts about adults' sudden death without specific reason have been increased. The definition of cause of death was a hot potato to legal medical experts. With the deep - going of etiology to molecular level, clinical cardiac diseases' researches have confirmed that the arrhythmia has been resulted from a kind of " idiopathic disorder of cardiac action potential" that is related to cardiac sodium channel diseases by SCN5A mutation confirmed by using the techniques of molecular genetics. The paper reviewed the characteristic of SMDS ( Sudden Manhood Death Syndrome) in forensic science and some kinds of diseases' genotype and phenotype in clinical medicine, and hoped to acquire some revelation for further related research.