3alpha hydroxysteroid dehydrogenase deficiency

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.

Chemical constituents
• Plant contains a bitter principle, colombine (%); traces of an alkaloid; and a glucoside. Also contains a amorphous bitter principle, picroretine and traces of berberine.
• A study showed that the bitter extract of the stem does not contain an alkaloid.
• Leaves yielded picroretine, traces of an alkaloid, and a substance similar to glyzirrhizin.
• Bitter principle is glucosidal in nature.
• Study reported two alkaloids, tinosporine and tinosporidine. (Later studies failed to confirm these.)
• Study yielded two new diterpenes along with known compounds tinotufolin D and vitexilactone. ( 7 )
• Ethanol extract of vines yielded three new diterpenoids, 2-O-lactoylborapetoside B (1), 6′-O-lactoylborapetoside B (2), and tinocrispol A (3), and nine known diterpenoids (4–12). (see study below) ( 28 )
• Proximate analysis of stem (S) and leaves (L) yielded: protein % (L) % (S), fat % (L) % (S), carbohydrate % (L) % (S), ash % (L) % (S), moisture (L) % (S), fiber % (L) % (S). (see study below) ( 37 )
• Study of stems yielded four new furanoid diterpenes of clerodane types, Crispene A, B, C, and D, including one known furanoid diterpene glucoside, borapetoside E. ( 66 )

3alpha hydroxysteroid dehydrogenase deficiency

3 alpha hydroxysteroid dehydrogenase deficiency

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