Significance of Trans Fatty Acids and Omega-3 Fatty Acids in Japanese Men with Coronary Heart Disease

Trans fatty acids (TFA) are found naturally in ruminant foods (R-TFA) by biohydrogenation in ruminant animals or industrially produced oils (IP-TFA) by partial hydrogenation of vegetable or fish oils. The intake of TFA mainly IP-TFA is associated with an elevated risk of coronary heart disease (CHD), while some prospective cohort studies showed that R-TFA were associated with a lower risk for sudden cardiac death (SCD). Our case-control study showed that trans-C18:2 isomers (IP-TFA) were significantly higher, and palmitelaidic acid (R-TFA) levels were lower in patients with acute coronary syndrome (ACS) compared with healthy men. Eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) have different effects on cardiometabolic risk factors. Delta-5 desaturase (D5D) is a key enzyme in the conversion of linoleic acid and alpha-linoleneic acid to arachidonic acid (AA) and EPA, respectively. Previous studies reported that low D5D estimated from the ratio of AA to dihomo-gamma linolenic acid predicts the incident cardiovascular disease. In our cross-sectional study with 436 men with ACS, various atherogenic lipid markers such as small dense LDL cholesterol and malondialdehyde-modified LDL were significantly inversely associated with D5D activity. We found that the EPA/AA may be a superior risk marker than DHA/AA in terms of correlation with atherogenic lipid profiles

Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan

Peripherin-2 (PRPH2) is one of the causative genes of inherited retinal dystrophy. While the gene is relatively common in Caucasians, reports from Asian ethnicities are limited. In the present study, we report 40 Japanese patients from 30 families with PRPH2-associated retinal dystrophy. We identified 17 distinct pathogenic or likely pathogenic variants using next-generation sequencing. Variants p.R142W and p.V200E were relatively common in the cohort. The age of onset was generally in the 40’s; however, some patients had earlier onset (age: 5 years). Visual acuity of the patients ranged from hand motion to 1.5 (Snellen equivalent 20/13). The patients showed variable phenotypes such as retinitis pigmentosa, cone-rod dystrophy, and macular dystrophy. Additionally, intrafamilial phenotypic variability was observed. Choroidal neovascularization was observed in three eyes of two patients with retinitis pigmentosa. The results demonstrate the genotypic and phenotypic variations of the disease in the Asian cohort