Eugene I. Schwartz

Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia.

We used polymerase chain reaction‐single‐strand conformation polymorphism (PCR‐SSCP) analysis to detect LDL receptor gene defects in the St. Petersburg population. We have found a deltaG197 mutation in several patients of Jewish origin. The mutation named is shown to be responsible for one‐third (7/23) of familial hypercholesterolemia (FH) cases in St. Petersburg Jews and absent in patients of Russian descent. The prevalence of a deltaG197 mutation in St. Petersburg Jews is consistent with its origin in Lithuania or Poland. The deltaG197 mutation can be easily detected in polyacrylamide minigels because of formation of specific heteroduplexes during PCR with DNA of heterozygous patients. Taken together with high prevalence of the mutation in St. Petersburg Jews, this observation provides an opportunity for DNA diagnostics of FH in this ethnic group. Hum Mutat 12:255–258, 1998.

Interaction between the Platelet IIb/IIIa Receptor Gene and Serotonin Transporter Gene Is Involved in the Formation of the Predisposition to Myocardial Infarction in Young Men

In the past decades, myocardial infarction (MI) has been the main cause of mortality in developed countries. In view of this, finding of the molecular basis of the inherited predisposition to MI is one of the important tasks of modern medicine. The platelet (Pt) link of the coagulation cascade is known to play an essential role in MI genesis. The Pt aggregability is clearly associated with the predisposition to arterial thrombosis. In this study, we discovered the nature of one of the components responsible for the predisposition to MI in young men. This is a pronounced cooperative effect of the serotonin transporter gene (SLC6A4) and allelic variants of the gene encoding the IIIa subunit of the Pt IIb/IIIa receptor (GPIIIa). This gene–gene interaction makes it possible to detect individuals with a high risk of MI. Further study of this mechanism may provide the basis for therapeutic measures at the preclinical stage of the disease.