MOLECULAR AND NEURODEVELOPMENTAL ANALYSIS OF ANEUSOMY 18q SYNDROME

18q 畸形综合征的分子和神经发育分析

• 批准号: 6586839
• 负责人: DANIEL ESTEN HALE
• 金额: $ 23.48万
• 依托单位: UNIVERSITY OF TEXAS HLTH SCIENCE CENTER
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-12-01 至 2002-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6586839
• 关键词: child physical development; chromosome disorders; clinical research; developmental neurobiology; hearing; hormone regulation /control mechanism; hormone therapy; human subject; human therapy evaluation; hypothalamus; myelination; pituitary gland; somatotropin

Deletion of a portion of the long arm of chromosome 18 (18q- syndrome) is one of the most common aneusomies to affect humans. Although the size of the deletion is variable, affected children share common clinical features such as short stature and mental retardation. The hypothesis on which this study is based is that there are alterations in the timing of myelination of central and peripheral nervous systems secondary to having only a single copy of the gene for myelin basic protein; this leads to disregulation of the hypothalamic pituitary axis and underproduction of GH. The abnormal hormonal milieu further retards myelination which exacerbates neurodevelopmental abnormalities and contributes to the severity of the mental retardation. The purpose of this study is to examine whether GH treatment has beneficial effects in such areas as the rate of linear growth, hypothalamic/pituitary function, the degree of CNS myelination, hearing, and neurodevelopmental maturation.

18 号染色体长臂部分缺失（18q 综合征）是影响人类的最常见的异体之一。 尽管缺失的大小各不相同，但受影响的儿童具有共同的临床特征，例如身材矮小和智力低下。 这项研究所依据的假设是，中枢和周围神经系统的髓鞘形成时间发生了改变，这是由于髓鞘碱性蛋白基因只有一个拷贝。这会导致下丘脑垂体轴失调和 GH 产生不足。异常的激素环境进一步阻碍髓鞘形成，从而加剧神经发育异常并导致智力低下的严重程度。 本研究的目的是检查 GH 治疗是否对线性生长速度、下丘脑/垂体功能、中枢神经系统髓鞘形成程度、听力和神经发育成熟等方面产生有益影响。