更新于：2024-11-01

BBS10

更新于：2024-11-01

基本信息

别名

Bardet-Biedl syndrome 10、Bardet-Biedl syndrome 10 protein、BBS10

+ [2]

简介

Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184).

关联

项与 BBS10 相关的药物

AAV8-RK-BBS10

靶点

BBS10

作用机制

BBS10 modulators

在研机构

MeiraGTx UK II Ltd.

原研机构

MeiraGTx UK II Ltd.

在研适应症

巴德-比德尔综合征

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

100 项与 BBS10 相关的临床结果

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100 项与 BBS10 相关的转化医学

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0 项与 BBS10 相关的专利（医药）

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项与 BBS10 相关的文献（医药）

2024-02-01·Prenatal Diagnosis

The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction

Article

作者: Miller, Jena L ; Norton, Mary E ; Jelin, Angie C ; Alkuraya, Fowzan S ; Shamseldin, Hanan ; Lianoglou, Billie ; Baker, Linda A ; Sparks, Teresa N ; Hays, Thomas ; Blakemore, Karin ; Miller, Kristen A ; Hertenstein, Christine ; Brar, Bobby K ; Dukhovny, Stephanie ; Maddirevula, Sateesh ; Wapner, Ronald

AbstractObjectiveFetal megacystis generally presents as suspected lower urinary tract obstruction (LUTO), which is associated with severe perinatal morbidity. Genetic etiologies underlying LUTO or a LUTO—like initial presentation are poorly understood. Our objectives are to describe single gene etiologies in fetuses initially ascertained to have suspected LUTO and to elucidate genotype‐phenotype correlations.MethodsA retrospective case series of suspected fetal LUTO positive for a molecular diagnosis was collected from five centers in the Fetal Sequencing Consortium. Demographics, sonograms, genetic testing including variant classification, and delivery outcomes were abstracted.ResultsSeven cases of initially prenatally suspected LUTO‐positive for a molecular diagnosis were identified. In no case was the final diagnosis established as urethral obstruction that is, LUTO. All variants were classified as likely pathogenic or pathogenic. Smooth muscle deficiencies involving the bladder wall and interfering with bladder emptying were identified in five cases: MYOCD (2), ACTG2 (2), and MYH11 (1). Other genitourinary and/or non‐genitourinary malformations were seen in two cases involving KMT2D (1) and BBS10 (1).ConclusionOur series illustrates the value of molecular diagnostics in the workup of fetuses who present with prenatally suspected LUTO but who may have a non‐LUTO explanation for their prenatal ultrasound findings.

2024-01-03·Journal of Animal Science

Integration of multi-omics reveals the important role of the BBS10 gene in reproduction

Article

作者: Feng, Pingjie ; Pan, Zhangyuan ; Zhang, Guoqing ; Li, Xinyue ; Chu, Mingxing ; Wang, Shoufeng ; Shi, Jianxin ; Li, Hao

AbstractBlood samples are easily obtained from sheep. Therefore, blood analysis can be a convenient method for evaluating reproductive traits in sheep by detecting genetic and metabolic changes in the ovary. By combining 167 RNA sequencing data and 60 untargeted metabolomics data, this study analyzed the relationship between genes and metabolites in the ovary and blood. The conjoint KEGG enrichment analysis enriched glutathione (GSH) metabolic pathways both in the ovary and blood. This finding provides an explanation for possible GSH metabolic processes in the ovary with metabolite exchange in the blood. The metabolite–gene–disease interaction network revealed a correlation between the expression of certain Bardet–Biedl syndrome (BBS) family genes in the ovary and blood. This indicates that BBS family genes, such as BBS10 in sheep blood, could be a potential biomarker for BBS. We investigated the relationship between BBS10 gene expression in the ovary and lambing numbers using whole-genome sequencing data from 450 ewes. Our findings suggest that g.112314188C>G may lead to decreased litter size in ewes carrying the FecB gene. These single nucleotide polymorphisms could be potential molecular markers for breeding sheep.

2024-01-01·American Journal of Medical Genetics Part A

Early development and adaptive functioning in children with Bardet‐Biedl syndrome

Article

作者: Richardson, Jesse G ; Berg, Richard L ; Keifer, Ekaterina ; Haws, Robert M

AbstractThis study had two aims. Aim one investigated achievement of 10 developmental milestones in children with Bardet‐Biedl syndrome (BBS). Aim one data were derived from retrospective responses by caregivers of individuals with BBS who are enrolled in the Clinical Registry Investigating Bardet‐Biedl syndrome (CRIBBS). CRIBBS is a natural history registry acquiring serial observations. Aim two investigated early adaptive skills using the Adaptive Behavior Assessment System (ABAS‐II 0–5) completed by caregivers of children with BBS aged from 0 to 5. There were 652 individuals with milestone information (with some variability based on availability of information for specific milestones), and 101 individuals (including 95 among the 652) with ABAS‐II information. Results revealed wide‐ranging delays in adaptive skills, particularly in the domain of Self‐Care. Expressive language appears to be the most frequently delayed developmental milestone. We found a difference by BBS genotype wherein individuals with BBS1 had higher adaptive/developmental scores than individuals with BBS10. Age also carried a significant association with adaptive skills diverging farther from a normative trajectory as children with BBS progress through early childhood.

项与 BBS10 相关的新闻（医药）

2023-02-16

·生物谷

Molecular Therapy Nucleic Acids: 一种新的基因治疗可以有效延缓视力丧失

Bardet-Biedl综合征(BBS)是一种典型的纤毛病变。在这种疾病中，对维持纤毛功能至关重要的基因突变会导致多种细胞类型的细胞功能障碍，导致肥胖、多指、肾功能衰竭和失明。 Bardet-Biedl综合征(BBS)是一种典型的纤毛病变。在这种疾病中，对维持纤毛功能至关重要的基因突变会导致多种细胞类型的细胞功能障碍，导致肥胖、多指、肾功能衰竭和失明。其中许多突变使一种名为BBSome的蛋白质复合体的功能失效，该复合体充当鞭毛内运输(IFT)复合体的货物适配器，扩大了IFT在纤毛运输中的货物范围，并调节货物蛋白质进出纤毛的运动。 Bardet-Biedl综合征(BBS)的失明是由视网膜光感受器细胞的功能障碍和丢失引起的。BBS10的突变约占所有BBS病例的21%，它编码一种伴侣蛋白，对于BBSome的组装是必不可少的，BBSome是一种对纤毛运输至关重要的货物适配器。眼内BBSome功能的丧失会导致感光细胞对光的敏感性降低、感光细胞纤毛畸形、纤毛运输功能障碍以及感光细胞死亡。缺乏BBS10的视锥感光细胞在视网膜电描记术中的电功能先天较低。图片来源: https://doi.org/10.1016/j.omtn.2022.12.007 近日，来自爱荷华大学的研究者们在Molecular Therapy: Nucleic Acids杂志上发表了题为“Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model”的文章，该研究发现视网膜下基因治疗在延缓视力丧失方面具有显著优势。在这项研究中，研究者通过在视网膜下注射病毒载体来传递小鼠Bbs10基因的编码序列来进行基因增强治疗，以治疗BBS10小鼠模型中的视网膜变性。长期疗效的评估是通过测量视网膜随时间推移的电功能，对治疗区域进行成像以可视化细胞存活，进行视觉引导游泳测试来测量功能视力，以及进行视网膜组织学检查来评估的。视网膜下基因治疗延缓了光感受器细胞的死亡，并保留了治疗眼的视网膜功能。值得注意的是，在基因增强后，视锥感光细胞恢复了它们的电功能。光感受器在治疗后10.5个月显示Bbs10-/-动物2治疗眼的长期存活图片来源: https://doi.org/10.1016/j.omtn.2022.12.007 尽管仍有许多悬而未决的问题，但研究者证明了BBS10小鼠模型的视网膜下基因治疗可以延缓BBS的视力丧失。解决长期疗效衰减方面的挑战，确定晚期治疗的可行性，加深对剂量-反应和种间剂量转换的理解，以及采取初步的临床转换步骤，是目前的首要任务。（生物谷 Bioon.com）参考文献 Ying Hsu et al. Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model. Mol Ther Nucleic Acids. 2022 Dec 12;31:164-181. doi: 10.1016/j.omtn.2022.12.007.