2006
DOI: 10.1159/000093583
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Congenital Hyperreninemic Hypoaldosteronism in Israel: Sequence Analysis of CYP11B2 Gene

Abstract: Background/Aims: Isolated aldosterone biosynthesis defect causing congenital hyperreninemic hypoaldosteronism with otherwise normal adrenal function usually results from aldosterone synthase deficiency. Patients present with manifestations of mineralocorticoid deficiency during the first weeks of life. The largest numbers of cases have been described in Iranian Jews, who carried concomitantly two homozygous missense mutations (R181W and V386A). In a few cases with presumed aldosterone synthase deficiency no mu… Show more

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Cited by 7 publications
(14 citation statements)
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“…The bone area/muscle area ratio increased with age in both sexes and significantly more among men in disagreement with [2] where the ratio decreased after age of 50 in women and was rather stable in men. An extension to the mechanostat theory has been introduced by [2, 5] using the ratios of bone mass/strength to muscle mass/strength to distinguish between a primary and secondary bone disease. They proposed that s ince muscle and bone are closely functionally linked an assessment of both elements should be included in the pathogenetic evaluation of skeletal disease.…”
Section: Discussionmentioning
confidence: 99%
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“…The bone area/muscle area ratio increased with age in both sexes and significantly more among men in disagreement with [2] where the ratio decreased after age of 50 in women and was rather stable in men. An extension to the mechanostat theory has been introduced by [2, 5] using the ratios of bone mass/strength to muscle mass/strength to distinguish between a primary and secondary bone disease. They proposed that s ince muscle and bone are closely functionally linked an assessment of both elements should be included in the pathogenetic evaluation of skeletal disease.…”
Section: Discussionmentioning
confidence: 99%
“…Animal studies of mechanical loading support this theory [3, 4]. Muscle strength and bone strength are in close relationship to each other across the paediatric age range and children's bones become adapted to the increasing muscle forces as they grow [5]. As recently reviewed by Bonnet and Ferrari [6], studies have indicated that physical activity with sufficient loading intensity and frequency can effectively improve bone mass, structure and strength during adolescence, especially during the pre-pubertal years [7-9].…”
Section: Introductionmentioning
confidence: 99%
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“…The mutant D335G was previously reported in a heterozygous patient in association with CMO II and it has not yet been characterised [22]. Therefore, the enzymatic characterisation of this mutation using the fission yeast system will enable us to understand the effect of this point mutation on the activity of CYP11B2.…”
Section: Validation Of the New Fission Yeast System And Investigationmentioning
confidence: 99%
“…Hypoaldosteronism associated with Cyp11b2 gene mutations has been frequently observed in patients of Middle Eastern origin (Leshinsky-Silver et al, 2006;Nguyen et al, 2008;Pascoe et al, 1992). Correlation studies between genotype and enzymatic activities have demonstrated that some missense mutations (R181W, V386A, E198D), expressed in the homozygous form, are insufficient to abolish aldosterone synthase activity.…”
Section: Introductionmentioning
confidence: 99%