REGULATION OF MINERAL METABOLISM

矿物质代谢的调节

• 批准号: 3918197
• 负责人: S J MARX
• 金额: --
• 依托单位: NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3918197
• 关键词: autosomal dominant trait; calcium disorder; child (0-11); endocrine neoplasm; homozygote; hormone regulation /control mechanism; human subject; human tissue; hypercalcemia; hyperparathyroidism; kidney metabolism; linkage mapping; pancreatic islet disorder; parathyroid disorder; pituitary disorders

Disorders of mineral metabolism have been evaluated with methods extending from epidemiology to cellular biology. Two forms of familial hyperparathyroidism have been characterized in detail. Familial hypocalciuric hypercalcemia is an autosomal dominant trait associated with abnormal interactions with calcium in parathyroid and kidney. Familial multiple endocrine neoplasia type 1 is an autosomal dominant trait causing hyperfunction of parathyroids, pancreatic iseit and anterior pituitary. It is associated with gradual but abnormal proliferation of the tissues affected. Genetic linkage studies in a large kindred have localized the MEN1 gene to the long arm of chromosome 11. Plasma from affected persons shows high mitogenic activity upon cultured bovine parathyroid cells. This mitogenic activity in plasma may be detectable early in life and may be the cause of primary hyperparathyroidism in familial multiple endocrine neoplasia type 1.

矿物质代谢紊乱已被评估的方法 从流行病学延伸到细胞生物学。 两种形式的 家族性甲状旁腺功能亢进症已被详细描述。 家族性低尿钙高钙血症是一种常染色体显性遗传性状 与甲状旁腺中钙的异常相互作用有关 和肾脏。 家族性多发性内分泌腺瘤1型是一种 引起甲状旁腺功能亢进的常染色体显性特征， 胰腺炎和垂体前叶。 与其相关联 受影响的组织逐渐但不正常的增殖。 在一个大型家族中的遗传连锁研究已经定位了MEN1 基因转移到11号染色体的长臂上。 受影响者的血浆 人在培养的牛上显示高促有丝分裂活性 副甲状腺细胞 血浆中的这种促有丝分裂活性可能是 可在生命早期检测到，可能是原发性 家族性多发性内分泌瘤型甲状旁腺功能亢进 1.