Rauschenberger et al. (2010) found that development and severity of symptoms in HSD10 disease are unrelated to residual enzymatic activity. They reported a male infant with a severe form of the disorder who had absent neurologic development and died of progressive hypertrophic cardiomyopathy at age 7 months. Genetic analysis identified a hemizygous mutation in the HSD17B10 gene (D86G; ); patient fibroblasts showed about 30% residual enzymatic activity. Another boy with a hemizygous HSD17B10 variant (Q165H) had failure to thrive in infancy but had normal cognitive and motor development up to age 8 years, despite his fibroblasts having no detectable MHBD activity. The findings indicated that the clinical effects of this disorder cannot be attributed to the accumulation of toxic metabolites in the isoleucine pathway or other metabolic effects, suggesting that an isoleucine-restricted diet is unlikely to provide therapeutic benefit. Fibroblasts from the individual with the Q165H variant had mostly normal-appearing mitochondria, but 27% showed depletion of cristae. In contrast, fibroblasts from the patient with the D86G or R130C ( ) mutations showed abnormal morphology in 65 to 85% of mitochondria. These findings indicated that HSD10 is required for normal mitochondrial integrity, and that this function is not correlated with residual enzyme activity. Conditional knockout of the Hsd17b10 gene in mouse noradrenergic neurons resulted in a significant number of abnormal mitochondria, and knockdown of the gene in Xenopus caused increased apoptosis in cells. Rauschenberger et al. (2010) concluded that HSD10 disease is not a classic organic aciduria, and that the clinical manifestations result from defects in mitochondrial function.
International Adrenal Cortex Conference “Adrenal 2010”
Wednesday, June 16, 2010 -
Friday, June 18, 2010
Location: San Diego, California Description: This conference provided a forum for both new and established investigators to present their most recent work, highlighting new findings relevant to adrenal physiology, biochemistry and molecular biology, genetics, and medicine. It was anticipated that these discoveries would provide a framework for further understanding of the function of the adrenal gland and its contributions to health and disease.
I was reading in the university health news daily website that a study performed by researchers at the University of Texas . Anderson Cancer Center found that men with prostate cancer who ate 3 tablespoons of milled or ground flax seeds each day had decreased prostate cancer cell proliferation compared to similar men who did not eat flax seeds. According to the American Cancer Society, men who supplement their diets with flax seed have lower PSA levels and slower growth of benign as well as cancerous prostate cells.
Perhaps the effect of phytoestrogenic in humans it’s not fully understood as yet.