舞蹈病-棘红细胞增多症(chorea-acanthocytosis,ChAc)是一种罕见的常染色体隐性遗传病,其临床特征较为复杂,可累及运动、神经、精神及内分泌等多个系统,常伴有头颈部不自主运动、进行性舞蹈样运动障碍、认知能力下降等临床表现,极易与...舞蹈病-棘红细胞增多症(chorea-acanthocytosis,ChAc)是一种罕见的常染色体隐性遗传病,其临床特征较为复杂,可累及运动、神经、精神及内分泌等多个系统,常伴有头颈部不自主运动、进行性舞蹈样运动障碍、认知能力下降等临床表现,极易与麦克劳德综合征、类亨廷顿病2型、泛酸激酶相关的神经退行性等疾病相混淆[1];液泡蛋白分类同源物13A(vacuolar protein sorting homolog 13A,VPS13A)基因编码蛋白chorein对于维持细胞膜正常结构及神经元细胞功能具有重要作用,其突变与CHAc发病相关。现将南昌大学第一附属医院诊治的1例VPS13A基因双位点纯合突变致ChAc患者报告如下。展开更多
Sheath blight disease (ShB) has a severe impact on the production of rice. ABI3/VP1-like 1(RAVL1) negatively regulated the rice defense mechanism against ShB, however, this regulatorymechanism is not clearly understoo...Sheath blight disease (ShB) has a severe impact on the production of rice. ABI3/VP1-like 1(RAVL1) negatively regulated the rice defense mechanism against ShB, however, this regulatorymechanism is not clearly understood. In this study, we identified that indeterminate domain 3 (IDD3) waspositively regulated by RAVL1. Further, chromatin immunoprecipitation (ChIP) assay, yeast one-hybridassay and transient expression assay indicated a direct binding between RAVL1 and the IDD3 promoterregion. IDD3 was ubiquitously expressed in different tissues and at different stages, and its expressionwas significantly enhanced by Rhizoctonia solani infection. IDD3 exhibited transcription activation activityin yeast and IDD3-GFP was found to be localized in the nucleus. IDD3 mutants exhibited no significantdifferences in response to ShB, while IDD3 overexpressors were more susceptible to ShB compared withwild type (WT) plants. Furthermore, IDD3 repressors were less susceptible to R. solani than WT plants.Interestingly, the expression of brassinosteroid-related genes (D2, D11 and BRI1) was lower in IDD3repressors and higher in IDD3 overexpressors compared with WT. However, the ChIP assay revealedthat IDD3 did not directly bind to the D2 and D11 promoters. Overexpression of IDD3 in BRI1 mutantd61-1 inhibited the activity of IDD3, reducing its susceptibility to ShB compared with IDD3 overexpressorand WT plants, indicating that IDD3 negatively regulated the rice defense mechanism against ShB by activatingthe BR signaling pathway. Thus, our analyses provided information to enhance the understanding of therice defense mechanism against ShB.展开更多
BACKGROUND Autosomal recessive spinocerebellar ataxia type 4(SCAR4)is a type of SCA that is a group of hereditary diseases characterized by gait ataxia.The main clinical features of SCAR4 are progressive cerebellar at...BACKGROUND Autosomal recessive spinocerebellar ataxia type 4(SCAR4)is a type of SCA that is a group of hereditary diseases characterized by gait ataxia.The main clinical features of SCAR4 are progressive cerebellar ataxia,pyramidal signs,neuropathy,and macrosaccadic intrusions.To date,many gene dysfunctions have been reported to be associated with SCAR4.CASE SUMMARY Here,we report a novel compound heterozygous mutation,c.3288delA(p.Asp1097-ThrfsTer6),in the VPS13D gene in a young female Chinese patient.The patient found something wrong with her legs about 10 years ago and presented with the typical characteristics of SCAR4 when she came to the hospital,including ataxia,neuropathy,and positive pyramidal signs.She was then diagnosed with SCAR4 and went home with symptomatic schemes.CONCLUSION SCAR4 is a hereditary disease characterized by ataxia,pyramidal signs,neuropathy,and macrosaccadic intrusions.We report a novel compound heterozygous mutation,c.3288delA(p.Asp1097ThrfsTer6),in the VPS13D gene,which enriches the gene mutation spectrum and provides additional information about SCAR4.展开更多
文摘舞蹈病-棘红细胞增多症(chorea-acanthocytosis,ChAc)是一种罕见的常染色体隐性遗传病,其临床特征较为复杂,可累及运动、神经、精神及内分泌等多个系统,常伴有头颈部不自主运动、进行性舞蹈样运动障碍、认知能力下降等临床表现,极易与麦克劳德综合征、类亨廷顿病2型、泛酸激酶相关的神经退行性等疾病相混淆[1];液泡蛋白分类同源物13A(vacuolar protein sorting homolog 13A,VPS13A)基因编码蛋白chorein对于维持细胞膜正常结构及神经元细胞功能具有重要作用,其突变与CHAc发病相关。现将南昌大学第一附属医院诊治的1例VPS13A基因双位点纯合突变致ChAc患者报告如下。
基金the Science and Technology Innovation Talents of Shenyang,China(Grant No.RC190489).
文摘Sheath blight disease (ShB) has a severe impact on the production of rice. ABI3/VP1-like 1(RAVL1) negatively regulated the rice defense mechanism against ShB, however, this regulatorymechanism is not clearly understood. In this study, we identified that indeterminate domain 3 (IDD3) waspositively regulated by RAVL1. Further, chromatin immunoprecipitation (ChIP) assay, yeast one-hybridassay and transient expression assay indicated a direct binding between RAVL1 and the IDD3 promoterregion. IDD3 was ubiquitously expressed in different tissues and at different stages, and its expressionwas significantly enhanced by Rhizoctonia solani infection. IDD3 exhibited transcription activation activityin yeast and IDD3-GFP was found to be localized in the nucleus. IDD3 mutants exhibited no significantdifferences in response to ShB, while IDD3 overexpressors were more susceptible to ShB compared withwild type (WT) plants. Furthermore, IDD3 repressors were less susceptible to R. solani than WT plants.Interestingly, the expression of brassinosteroid-related genes (D2, D11 and BRI1) was lower in IDD3repressors and higher in IDD3 overexpressors compared with WT. However, the ChIP assay revealedthat IDD3 did not directly bind to the D2 and D11 promoters. Overexpression of IDD3 in BRI1 mutantd61-1 inhibited the activity of IDD3, reducing its susceptibility to ShB compared with IDD3 overexpressorand WT plants, indicating that IDD3 negatively regulated the rice defense mechanism against ShB by activatingthe BR signaling pathway. Thus, our analyses provided information to enhance the understanding of therice defense mechanism against ShB.
文摘BACKGROUND Autosomal recessive spinocerebellar ataxia type 4(SCAR4)is a type of SCA that is a group of hereditary diseases characterized by gait ataxia.The main clinical features of SCAR4 are progressive cerebellar ataxia,pyramidal signs,neuropathy,and macrosaccadic intrusions.To date,many gene dysfunctions have been reported to be associated with SCAR4.CASE SUMMARY Here,we report a novel compound heterozygous mutation,c.3288delA(p.Asp1097-ThrfsTer6),in the VPS13D gene in a young female Chinese patient.The patient found something wrong with her legs about 10 years ago and presented with the typical characteristics of SCAR4 when she came to the hospital,including ataxia,neuropathy,and positive pyramidal signs.She was then diagnosed with SCAR4 and went home with symptomatic schemes.CONCLUSION SCAR4 is a hereditary disease characterized by ataxia,pyramidal signs,neuropathy,and macrosaccadic intrusions.We report a novel compound heterozygous mutation,c.3288delA(p.Asp1097ThrfsTer6),in the VPS13D gene,which enriches the gene mutation spectrum and provides additional information about SCAR4.
