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HPDL双等位基因致神经发育障碍伴进行性痉挛和脑白质异常的临床特点与基因分析
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作者 梅道启 梅世月 +4 位作者 王媛 王莉 王龙飞 王潇娜 段勇涛 《中华神经科杂志》 CAS CSCD 北大核心 2023年第12期1404-1413,共10页
目的总结HPDL双等位基因变异导致神经发育障碍伴进行性痉挛和脑白质异常的临床表型及遗传学特点。方法回顾性分析2018年2月至2022年6月郑州大学附属儿童医院神经内科确诊的3例神经发育障碍患儿的临床和遗传学资料,对先证者采用全外显子... 目的总结HPDL双等位基因变异导致神经发育障碍伴进行性痉挛和脑白质异常的临床表型及遗传学特点。方法回顾性分析2018年2月至2022年6月郑州大学附属儿童医院神经内科确诊的3例神经发育障碍患儿的临床和遗传学资料,对先证者采用全外显子基因测序发现HPDL基因变异;通过Sanger法对家系成员进行验证,对HPDL基因变异特点进行总结,对患儿进行治疗、随访。结果3例确诊为神经发育障碍性疾病患儿中,女性2例,男性1例,发病年龄为出生25 d至11岁。临床表型中例1、例2患儿均为婴儿期起病的Leigh样综合征表现,有反复癫痫发作、智能落后、语言及运动发育迟缓、乳酸增高、代谢性酸中毒表现,头颅磁共振成像平扫提示双侧大脑半球脑沟增深,双侧基底节区、背侧丘脑、大脑脚及脑干内对称性异常信号,幕上脑室扩张,胼胝体变薄。头颅磁共振波谱提示双侧壳核病变测量区可见乳酸峰。例3表现为痉挛性截瘫,早期有大运动发育迟缓,后期出现痉挛性步态。头颅磁共振成像平扫未见异常。3例患儿均为复合杂合变异,全外显子基因测序提示HPDL双等位基因分别来源于父源整码杂合变异c.2628delGCC(p.Cys9His10delinsTyr)及母源错义杂合变异c.788C>T(p.Thr263Met)、父源截短变异c.1051C>T(p.Gln351*)及母源移码变异c.995de1C(p.Thr332Mfs*9)、父源错义变异c.781C>G(p.Leu261Val)及母源截短变异c.721C>T(p.Gln241*);其中c.2628delGCC(p.Cys9His10delinsTyr)为未报道的位点变异;染色体拷贝数变异及线粒体相关基因未见异常。例1及例2患儿应用抗癫痫发作药物及鸡尾酒混合疗法后癫痫得到有效控制,例3应用康复功能训练综合治疗,运动及智能有所改善。结论HPDL双等位基因变异临床表型为Leigh样综合征及遗传性痉挛性截瘫,遗传学特点为复合杂合变异,包括整码、错义、移码、截短变异。HPDL双等位基因变异为3例先证者遗传学病因。 展开更多
关键词 hpdl双等位基因 发育障碍 痉挛性截瘫 遗传性 Leigh样综合征 4-羟基苯丙酮酸双加氧酶样蛋白
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HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration 被引量:1
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作者 Yu Sun Xiujuan Wei +17 位作者 Fang Fang Yiping Shen Haiyan Wei Jiuwei Li Xianglai Ye Yongkun Zhan Xiantao Ye Xiaomin Liu Wei Yang Yuhua Li Xiangju Geng Xuelin Huang Yiyan Ruan Zailong Qin Shang Yi Jianxin Lyu Hezhi Fang Yongguo Yu 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2021年第8期727-736,共10页
Mitochondrial diseases are caused by variants in both mitochondrial and nuclear genomes.A nuclear gene HPDL(4-hydroxyphenylpyruvate dioxygenase-like),which encodes an intermembrane mitochondrial protein,has been recen... Mitochondrial diseases are caused by variants in both mitochondrial and nuclear genomes.A nuclear gene HPDL(4-hydroxyphenylpyruvate dioxygenase-like),which encodes an intermembrane mitochondrial protein,has been recently implicated in causing a neurodegenerative disease characterized by pediatric-onset spastic movement phenotypes.Here,we report six Chinese patients with bi-allelic HPDL pathogenic variants from four unrelated families showing neuropathic symptoms of variable severity,including developmental delay/intellectual disability,spasm,and hypertonia.Seven different pathogenic variants are identified,of which five are novel.Both fibroblasts and immortalized lymphocytes derived from patients show impaired mitochondrial respiratory function,which is also observed in HPDL-knockdown(KD)He La cells.In these He La cells,overexpression of a wild-type HPDL gene can rescue the respiratory phenotype of oxygen consumption rate.In addition,a decreased activity of the oxidative phosphorylation(OXPHOS)complex II is observed in patient-derived lymphocytes and HPDL-KD He La cells,further supporting an essential role of HPDL in the mitochondrial respiratory chain.Collectively,our data expand the clinical and mutational spectra of this mitochondrial neuropathy and further delineate the possible disease mechanism involving the impairment of the OXPHOS complex II activity due to the bi-allelic inactivations of HPDL. 展开更多
关键词 hpdl gene Mitochondrial disease Respiration impairment OXPHOS Respiration chain complexⅡ
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大功率半导体激光相变硬化U74钢轨的实验研究 被引量:3
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作者 王智勇 苏国强 +1 位作者 张辉 左铁钏 《铁道科学与工程学报》 CAS CSCD 北大核心 2007年第1期63-67,共5页
使用自主研制的新型高光束质量大功率半导体激光器对U74钢轨进行相变硬化,并对硬化结果进行分析。分析结果表明,经过半导体激光处理后的表面区域晶粒结构明显细化,硬化层硬度HV10/20可以达到800~900,比基体硬度提高3~4倍,沿半导... 使用自主研制的新型高光束质量大功率半导体激光器对U74钢轨进行相变硬化,并对硬化结果进行分析。分析结果表明,经过半导体激光处理后的表面区域晶粒结构明显细化,硬化层硬度HV10/20可以达到800~900,比基体硬度提高3~4倍,沿半导体激光器光斑的不同轴向扫描对硬化层有很大影响,沿慢轴方向扫描得到的硬化层深度要远高于快轴方向的硬化层深度,硬度沿深度方向在过渡区附近迅速下降至基体硬度。实验表明,慢轴方向的相变硬化效率约为快轴方向的4倍。 展开更多
关键词 大功率半导体激光器(hpdl) 相变硬化 U74钢轨
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激光在制造业中发挥新的作用 被引量:1
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作者 罗冬梅 《世界制造技术与装备市场》 2000年第1期53-55,共3页
关键词 制造业 激光 表面处理 hpdl CMB工艺
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Laser Surface Modification of Lean-alloyed Austenitic Stainless Steel for Corrosion Resistance
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作者 Chan W K Kwok C T +1 位作者 Chan M C Lo K H 《腐蚀与防护》 北大核心 2012年第S1期55-61,共7页
In order to reduce the cost of the austenitic stainless steels(ASSs),the expensive austenite former(nickel) is often substituted by manganese.However,manganese is generally seen to have a detrimental effect on the cor... In order to reduce the cost of the austenitic stainless steels(ASSs),the expensive austenite former(nickel) is often substituted by manganese.However,manganese is generally seen to have a detrimental effect on the corrosion resistance.In the present study,the feasibility of laser surface modification of a lean-alloyed ASS(FeCrMn) for enhancing pitting corrosion resistance was investigated.Laser surface modification of FeCrMn was successfully achieved by a 2.3 kW high power diode laser(HPDL).Cyclic polarization tests for FeCrMn after laser surface modification in 3.5% NaCl solution at 25 ℃ were performed by using a potentiostat.The pitting resistance of the laser-modified specimens was found to be significantly improved as reflected by the noble shift in pitting potential.This could be attributed to redistribution of manganese sulphide leading to a more homogenous and refined microstructure.Pitting corrosion resistance of the laser-treated FeCrMn followed by subsequent citric acid passivation was found to be further improved as reflected by the noble shift in pitting potential to 0.18 V. 展开更多
关键词 laser surface melting hpdl lean-alloyed austenite stainless steel pitting corrosion citric acid passivation
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