Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus

Objective

To screen mutations in FERM domain-containing protein 7 (FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus (XLICN).

Methods

Common ophthalmic data and peripheral blood of two Chinese XLICN families (families A and B) were collected after informed consent. Genomic DNA was prepared from the peripheral blood of members of the two families and from 100 normal controls. Mutations in the FRMD7 gene were determined by directly sequencing polymerase chain reaction (PCR) products.

Results

We identified a novel mutation c.980_983delATTA compound with c.986C>A mutation in the 11th exon of FRMD7 in family B, and a previously reported splicing mutation c.782G>C (p.R261G) in family A. The mutations were detected in patients and female carriers, while they were absent in other relatives or in the 100 normal controls.

Conclusions

Our results expand the spectrum of FRMD7 mutations in association with XLICN, and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN.     

膜蛋白三维结构研究的新突破——线粒体呼吸链膜蛋白复合物II结构解析

由清华大学-中科院生物物理所结构生物学联合研究小组完成的"线粒体呼吸链膜蛋白复合物Ⅱ的晶体结构"研究成果以Article的方式发表在2005年7月1日出版的Cell上.本文介绍了该项成果的研究背景、意义、主要创新点及方法.     

Expression of a fusion protein of human ciliary neurotrophic factor and soluble CNTF-Receptor and identification of its activity

INTRODUCTIONCiliaryneurotrophicfactor (CNTF)isanat urallyoccurringproteinwithamolecularmassofapproximately 2 2kDa .Itisexpressedinglialcellswithinthecentralandperipheralnervoussystems.CNTFstimulatesgeneexpression ,cellsurvivalordifferentiationinavarietyof…     

分子伴侣、蛋白质聚集和大分子拥挤环境对蛋白质折叠的影响

研究了细胞内存在的分子伴侣、蛋白质聚集和大分子拥挤环境对蛋白质折叠的影响.首先,发现分子伴侣GroEL与底物蛋白的结合有"半位"和"全位"两种模式,它是由底物蛋白的分子形状、分子大小以及与GroEL的相互作用性质决定的.接着,发现两种不同的蛋白质一起复性时相互不干扰,提示细胞内蛋白质折叠可能不受其他蛋白聚集的影响;后又发现α-乳清蛋白的前熔球态不仅是分子伴侣也是蛋白质聚集体的作用对象.最后,研究大分子拥挤环境对蛋白质折叠热力学和动力学的影响,揭示了这种影响的复杂性和多样性.     

决明子蛋白质和蒽醌苷对D-半乳糖衰老小鼠学习记忆及代谢产物的影响

目的：观察决明子蛋白质和蒽醌苷对D-半乳糖所致衰老小鼠学习记忆与相关酶及代谢产物的影响。方法：选用长期皮下注射D-半乳糖形成的衰老小鼠模型。结果：三等分辐射式迷宫（即Y-迷宫）及一次性被动回避反应测试,证实决明子蛋白质和蒽醌苷对衰老小鼠的学习记忆障碍有显著的改善作用;决明子蛋白质和蒽醌苷可显著降低衰老小鼠脑组织中脂质过氧化产物丙二醛（MDA）的含量、提高脑组织超氧化物岐化酶（SOD）水平和减少肝组织中脂褐素（LF）含量。决明子蛋白质尚能显著降低衰老小鼠脑组织中单胺氧化酶（MAO）含量。结论：决明子蛋白质和蒽醌苷具有抗衰老及促进学习记忆能力的作用。     

神经网络方法在蛋白质结构预测中的研究与应用

蛋白质结构预测在生物信息学研究中占有重要地位。对神经网络在蛋白质结构预测中的应用作了评述。首先,简要地介绍了人工神经网络,然后对近年来用神经网络算法解决蛋白质结构预测的研究作了回顾,并分析了算法的效果和特点。最后,展望了用神经网络算法解决蛋白质结构预测问题的前景。     

乳清蛋白与运动营养

当今竞技体育对运动员的体能要求越来越高，普通膳食蛋白质的质量已不能满足训练和比赛的需要，乳清蛋白是一类利用先进工艺从牛奶中提取的蛋白质，它具有很高的生物学价值，它对运动能力的影响主要表现为；提供长时问运动时骨骼肌的能量供应；促进蛋白合成和肌肉增长；清除自由基和抗氧化性；提高机体免疫能力和延缓中枢疲劳，乳清蛋白是一种理想的运动营养食品，它在运动营养中将发挥越来越重要的作用。     

Cow's milk as a post-exercise recovery drink: implications for performance and health

Abstract

Post-exercise recovery is a multi-facetted process that will vary depending on the nature of the exercise, the time between exercise sessions and the goals of the exerciser. From a nutritional perspective, the main considerations are: (1) optimisation of muscle protein turnover; (2) glycogen resynthesis; (3) rehydration; (4) management of muscle soreness; (5) appropriate management of energy balance. Milk is approximately isotonic (osmolality of 280–290?mosmol/kg), and the mixture of high quality protein, carbohydrate, water and micronutrients (particularly sodium) make it uniquely suitable as a post-exercise recovery drink in many exercise scenarios. Research has shown that ingestion of milk post-exercise has the potential to beneficially impact both acute recovery and chronic training adaptation. Milk augments post-exercise muscle protein synthesis and rehydration, can contribute to post-exercise glycogen resynthesis, and attenuates post-exercise muscle soreness/function losses. For these aspects of recovery, milk is at least comparable and often out performs most commercially available recovery drinks, but is available at a fraction of the cost, making it a cheap and easy option to facilitate post-exercise recovery. Milk ingestion post-exercise has also been shown to attenuate subsequent energy intake and may lead to more favourable body composition changes with exercise training. This means that those exercising for weight management purposes might be able to beneficially influence post-exercise recovery, whilst maintaining the energy deficit created by exercise.     

A Case of Light Chain Deposition Disease (LCDD) in a Young Patient

Light chain disease is a variant of multiple myeloma in which the malignant population of marrow cells produces free monoclonal light chains but no heavy chain or complete immunoglobulin. The monoclonal light chains are small enough to be freely filtered by the kidneys and become Bence–Jones protein. Light chain disease comprises about 18% of multiple myeloma patients. Here we present a case report of a 38-year-old man who initially presented with complaints of pain in back and low grade fever off and on. He was found to have collapse of D9 and D12 vertebrae along with ascites and right pleural effusion and massive proteinuria. Multiple myeloma was considered as a differential diagnosis based on the investigations but eventually the patient was lost to follow up. This case is reported here as the light chain variant of multiple myeloma leading to deposition disease is less commonly reported and presents considerable difficulties in diagnosis.     

补充乳清蛋白对少年武术运动员免疫机能的影响观察

为研究乳清蛋白对少年武术运动员训练过程中免疫机能的影响,对26名12-15岁的少年武术运动员进行分组研究观察,在膳食和训练内容及强度等同的情况下,研究补充乳清蛋白实验组运动员和补充安慰剂的对照组运动员三个月后免疫机能的变化,结果表明：经三个月训练后,实验组免疫机能指标（IgA、IgM、IgG）都极显著性升高（P〈0．01）,对照组免疫机能指标（IgA、IgM、IgG）都显著性升高（P〈0．05）;各指标的升高幅度相比,实验组极显著性高于对照组（P〈0．01）。说明补充乳清蛋白有利于提高少年武术运动员的免疫能力。