While theoretical mechanisms of action and epidemiological data point to a potential platelet inhibitory effect of ALA, 40 human studies have not shown a consistent antiplatelet effect. 8 When 15 hypercholesterolemic subjects consumed 3 slices of bread containing flaxseed plus 15 g of ground flaxseed daily for 3 months, thrombin-stimulated platelet aggregation decreased with the flax supplement. 22 Another study reported that 40 g of flaxseed oil over 23 days produced an increase in the platelet EPA to arachidonic acid ratio, which suggests that flaxseed oil may decrease the tendency of platelets to aggregate. 41
In a Caucasian boy with HSD10MD, Falk et al. (2016) identified a hemizygous missense mutation in the HSD17B10 gene (K212E; ). No parental DNA or DNA from reportedly affected maternal uncles was available for study. In vitro functional expression assays showed that the mutation resulted in decreased dehydrogenase activity. However, more significantly, the mutation disrupted TRMT10C ( 615423 )-associated methyltransferase activity and destabilized the RNase P holoenzyme, resulting in impaired mitochondrial tRNA processing and maturation and impaired mitochondrial protein synthesis. The findings suggested that the major pathogenic mechanism resulting from HSD17B10 mutations is the adverse effect on mitochondrial function.
This gene encodes a member of the aldo/keto reductase superfamily , which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14.