For a quick reference sheet, see our scientific guide to GHK-Cu
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This interference effectively blocks androgen-dependent gene expression essential for normal male reproductive development (34)
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Studies of animal models have shown that such heterozygotes have a higher incidence of cardiomyopathy with aging and may be at risk for cardiac abnormalities when additional cardiac burdens are imposed.37), 38) A genetic epidemiological study in Japan showed that the prevalence of heterozygotes for SLC22A5 mutations was 1.01%, and the echocardiography analysis revealed that they were predisposed to late onset benign cardiac hypertrophy (odds ratio 15.1, 95% CI 1.39-164) compared with wild-types.9) However, a recent study examined the prevalence of heterozygotes for SLC22A5 mutations in 324 patients with cardiomyopathy and demonstrated that heterozygosity for PCD is not more frequent in patients with unselected types of cardiomyopathy and is unlikely to be an important cause of cardiomyopathy.27) Finally, heterozygosity for PCD mutations has been associated with cardiac arrhythmias that resolve after carnitine treatment.39) In any case, considering that about 1% of the population is heterozygous for this potentially treatable condition, more studies with careful follow-ups are deserved in the future
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