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CT and MR Imaging Findings in the Joubert Syndrome,a“ciliopathy”

Journal of Biomedical Science and Engineering 2015年第10期8卷 695-699页

作者： Kaveh Akbari Christine M.Fellner Daniel Flory Franz A.Fellner Institute of Radiology Kepler University ClinicMedical Faculty of the Johannes Kepler UniversityLinzAustria Medical Faculty of the Friedrich-Alexander-University Erlangen-Nurnberg ErlangenGermany

A 7-year-old boy presented with cerebellar ataxia with reduced tonicity, deficits of the fine and gross motor coordination skills and vestibular stimulus processing, as well as significantly delayed language development. MR imaging showed the so-called “molar tooth sign”, which was highly pathognomonic for the Joubert-Syndrome—an inherited cerebellar ataxia with a variety of clinical symptoms—and related entities. It is caused by a complex malformation of the cerebellar vermis and the midbrain. The cerebellar vermis is hypoplastic or completely absent;at the same time, the superior cerebellar peduncles are thickened. There is a lack of normal decussation of the fiber tracts in mesencephalon, which follow an abnormal horizontal course, as well as a lack of the decussation of the corticospinal fiber tracts in the caudal medulla oblongata and deformity of the 4th ventricle. Clinically, the triad of cerebellar ataxia, developmental retardation, and abnormal eye movements is indicating a related syndrome of this spectrum. The appearance of the involved children is characterized by dysmorphic facial features with epicanthus, broad nose bridge, low set ears and typically triangularly shaped and opened mouth. The diagnosis is usually made by imaging and clinical findings. Recently, advantages were made in genetic research on the Joubert syndrome and interesting findings published about diffusion tensor imaging and tractography. However, standard MR imaging, applying an adequate imaging protocol including sequences with excellent T1 contrast and 3D imaging with isotropic spatial resolution allowing reconstructions in all orientations, remains an essential tool for making this diagnosis.

关键词： Joubert Syndrome ciliopathy Cerebellar Ataxia Molar Tooth Sign Magnetic Resonance(MR)Imaging

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Phenotypical Aspects of a Familial Syndromic Retinitis Pigmentosa

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Open Journal of Ophthalmology 2024年第2期14卷 168-173页

作者： Irma Eneida Dos Santos Joseph Matar Mass Ndiaye Mariama Diambone Badji Alioune Abdoulaye Ndongo Gerauld Akpo Jean Pierre Diagne Gabriel Karold Mendy Mouhamed Attye Aboubacry Sadikh Sow Elhadji Amadou Ba Paule Aida Ndoye Roth Ophthalmology Department of Aristide Le Dantec Hospital Dakar Senegal Pediatric Department of Aristide Le Dantec Hospital Dakar Senegal Radiological Imaging Department of Aristide Le Dantec Hospital Dakar Senegal Ophthalmology Department of Abass Ndao Hospital Dakar Senegal

Aim: To report a familial case of syndromic retinitis pigmentosa identified at Aristide Le Dantec Hospital in Dakar and to describe their clinical characteristics ophthalmic. Observation: We report a sibling group of nine children, four died at a young age from unknown causes. Three children were affected by retinitis pigmentosa, two cases were syndromic. A history of nyctalopia was found in all three affected children. The mean age of onset of decreased visual acuity was 6.6 years. Patient 1 affected by syndromic retinitis pigmentosa had an extraocular sign of cystic dilation of the main bile duct. Patient 2 had myoclonic epilepsy, psychomotor retardation, and the molar tooth sign on cerebral MRI (highly suggestive of Joubert syndrome). The third child had isolated retinitis pigmentosa. Ophthalmological examinations (fundus examination, electroretinogram, and visual evoked potentials) and pediatric examinations in the remaining two children were normal. Discussion and Conclusion: Retinitis pigmentosa is a rare degenerative disease that can be associated with several other malformations, highlighting the importance of screening for associated conditions. It presents a grim functional prognosis and a life prognosis dependent on extraocular manifestations. Molecular biology (karyotyping, next-generation sequencing) could have identified the implicated genes and allowed for a formal diagnosis and genetic counseling.

关键词： Retinitis Pigmentosa Syndromic Heredity ciliopathy

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Cilia in cell signaling and human disorders

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Protein & Cell 2010年第8期1卷 726-736页

作者： Neil A.Duldulao Jade Li Zhaoxia Sun Department of Genetics Yale University School of Medicine333 Cedar St.SHM I-329ANew HavenCT 06520USA

One of the most widespread cellular organelles in nature is cilium,which is found in many unicellular and multicellular *** thought to be a mostly vestigial organelle,the cilium has been discovered in the past several decades to play critical motile and sensory roles involved in normal organogenesis during *** role of cilia has also been implicated in an ever increasing array of seemingly unrelated human diseases,including blindness,kidney cysts,neural tube defects and *** this article we review some of the recent developments in research on cilia,and how defects in ciliogenesis and function can give rise to developmental disorders and disease.

关键词： cilia ciliogenesis ciliopathy model organisms

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Small GTPases and cilia

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Protein & Cell 2011年第3期2卷 13-25页

作者： Yujie Li Jinghua Hu Department of Nephrology and Hypertension Mayo ClinicRochesterMinnesotaUSA Translational PKD Center Mayo ClinicRochesterMinnesotaUSA Department of Biochemistry and Molecular Biology Mayo ClinicRochesterMinnesotaUSA

Small GTPases are key molecular switches that bind and hydrolyze GTP in diverse membrane-and cytoskeletonrelated cellular ***,mounting evidences have highlighted the role of various small GTPases,including the members in Arf/Arl,Rab,and Ran subfamilies,in cilia formation and *** overlooked as an evolutionary vestige,the primary cilium has attracted more and more attention in last decade because of its role in sensing various extracellular signals and the association between cilia dysfunction and a wide spectrum of human diseases,now called *** we review recent advances about the function of small GTPases in the context of cilia,and the correlation between the functional impairment of small GTPases and *** of these cellular processes is of fundamental importance for broadening our view of cilia development and function in normal and pathological states and for providing valuable insights into the role of various small GTPases in disease processes,and their potential as therapeutic targets.

关键词： Small GTPase cilia ciliopathy

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Peripheral and central control of obesity by primary cilia

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Journal of Genetics and Genomics 2023年第5期50卷 295-304页

作者： Yue Wu Jun Zhou Yunfan Yang Center for Cell Structure and Function Shandong Provincial Key Laboratory of Animal Resistance BiologyCollaborative Innovation Center of Cell Biology in Universities of ShandongCollege of Life SciencesShandong Normal UniversityJinanShandong 250014China State Key Laboratory of Medicinal Chemical Biology Haihe Laboratory of Cell EcosystemCollege of Life SciencesNankai UniversityTianjin 300071China Department of Cell Biology School of Basic Medical SciencesCheeloo College of MedicineShandong UniversityJinanShandong 250012China

Primary cilia are hair-like structures that protrude from the cell *** are capable of sensing external cues and conveying a vast array of signals into cells to regulate a variety of physiological *** in cilium-associated genes are linked to a group of diseases with overlapping clinical manifestations,collectively known as ciliopathies.A significant proportion of human ciliopathy cases are accompanied by metabolic disorders such as obesity and type 2 ***,the mechanisms through which dysfunction of primary cilia contributes to obesity are *** this review,we present an overview of primary cilia and highlight obesity-related *** also discuss the potential role of primary cilia in peripheral organs,with a focus on adipose *** addition,we emphasize the significance of primary cilia in the central regulation of obesity,especially the involvement of ciliary signaling in the hypothalamic control of feeding *** review therefore proposes a framework of both peripheral and central regulation of obesity by primary cilia,which may benefit further exploration of the ciliary role in metabolic regulation.

关键词： ciliopathy Metabolism Adipose tissue Adipogenesis Hypothalamus

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Zebrafish as a Model for Human Ciliopathies

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Journal of Genetics and Genomics 2016年第3期43卷 107-120页

作者： Zhu Song Xiaoli Zhang Shuo Jia Pamela C.Yelick Chengtian Zhao Institute of Evolution & Marine Biodiversity College of Marine Life Science Ocean University of China Department of Orthodontics Division of Craniofacial and Molecular Genetics Tufts University Laboratory for Marine Biology and Biotechnology Qingdao National Laboratory for Marine Science and Technology

Cilia, microtubule-based structures found on the surface of almost all vertebrate cells, play an array of diverse biological functions. Abnormal ciliary axonemal structure and function can result in a class of genetic disorders that are collectively termed ciliopathies. Model organisms, including Chlamydomonas reinhardtii and Caenorhabditis elegans have been widely used to study the complex genetic basis of ciliopathies. Here, we review the advantages of the zebrafish as a vertebrate model for human ciliopathies. We summarize the features of zebrafish cilia, and the major findings and contributions of the zebrafish model in recent studies of human ciliopathies. We also discuss the new genome editing approaches being efficiently used in zebrafish, and the exciting prospects of these approaches in modeling human ciliopathies.

关键词： Cilia Zebrafish ciliopathy Disease model

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Cell cycle regulation through primary cilium:A long-forgotten story

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BIOCELL 2021年第4期45卷 823-833页

作者： LIN LIU ZHOUWEN XU YUYAN JIANG MD REZAUL KARIM XIAO HUANG Institute of Cell and Developmental Biology College of Life SciencesZhejiang UniversityHangzhou310058China

Protruded from cytomembrane,primary cilium is a widespread cell organelle that can be found in almost all cell types in *** of its comprehensive requirement in various cellular activities and various functions in different organs,primary cilium has been a valuable research area of human pathology research since the turn of the *** the potential application of the interaction between primary cilia and cell cycle regulation may be the most promising direction as many primary cilium-caused diseases are found to be caused by cell cycle dysregulation resulted from primary cilia ***,a deep understanding of the interaction between primary cilia and the cell cycle is in great *** in this review,we mainly described how the interaction between primary cilia and cell cycle proceeds and demonstrated three hypotheses raised from much different *** hypotheses include(1)Primary cilium as a cellular signaling hub to regulate the cell cycle,(2)Primary cilium as a reservoir of cell cycle regulation-related factors,and(3)Primary cilium as a cell cycle checkpoint or a ***,we also call for more attention on research of interaction between cell cycle and primary cilia and tried to point out some possible research directions for those who are interested.

关键词： Signaling pathway Cell cycle checkpoint ciliopathy Cancer

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Cilia and ciliopathies:From Chlamydomonas and beyond

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Science China(Life Sciences) 2008年第6期51卷 479-486页

作者： PAN JunMin Department of Biological Sciences and Biotechnology, Tsinghua University, Beijing 100084, China Department of Biological Sciences and Biotechnology Tsinghua University Beijing China

The biological function of motile cilia/flagella has long been recognized. The non-motile primary cilium, once regarded as a vestigial organelle, however, has been found recently to play unexpected roles in mammalian physiology and development. Defects in cilia have profound impact on human health. Diseases related to cilia, collectively called ciliopathies include male infertility, primary cilia dyskinesia, renal cyst formation, blindness, polydactyly, obesity, hypertension, and even mental retardation. Our current understanding of cilia and ciliopathies has been fueled by basic research employing various model organisms including Chlamydomonas, a unicellular green alga. This review article provides a general introduction to the cell biology of cilia and an overview of various cilia-related diseases.

关键词： Chlamydomonas cilia flagellla human disease ciliopathy

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The actin-bundling protein Fascin-1 modulates ciliary signalling

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Journal of Molecular Cell Biology 2023年第4期15卷 1-16页

作者： Lena Brücker Stefanie Kornelia Becker Vanessa Maissl Gregory Harms Maddy Parsons Helen Louise May-Simera Cilia Cell Biology Institute of Molecular PhysiologyJohannes Gutenberg University Mainz55128 MainzGermany Imaging Core Facility Cell Biology UnitUniversity Medical CentreJohannes Gutenberg University Mainz55101 MainzGermany Randall Centre for Cell and Molecular Biophysics King's College LondonLondon SE11ULUK

Primary cilia are microtubule-based cell organelles important for cellular communication. Since they are involved in the regulation of numerous signalling pathways, defects in cilia development or function are associated with genetic disorders, collectively called ciliopathies. Besides their ciliary functions, recent research has shown that several ciliary proteins are involved in the coordination of the actin cytoskeleton. Although ciliary and actin phenotypes are related, the exact nature of their interconnection remains incompletely understood. Here, we show that the protein BBS6, associated with the ciliopathy Bardet–Biedl syndrome, cooperates with the actin-bundling protein Fascin-1 in regulating filopodia and ciliary signalling. We found that loss of Bbs6 affects filopodia length potentially via attenuated interaction with Fascin-1. Conversely, loss of Fascin-1 leads to a ciliary phenotype, subsequently affecting ciliary Wnt signalling, possibly in collaboration with BBS6. Our data shed light on how ciliary proteins are involved in actin regulations and provide new insight into the involvement of the actin regulator Fascin-1 in ciliogenesis and cilia-associated signalling. Advancing our knowledge of the complex regulations between primary cilia and actin dynamics is important to understand the pathogenic consequences of ciliopathies.

关键词： cilia actin Wnt signalling ciliopathy Bardet–Biedl syndrome filopodia

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Potential Application of TCM Sophoridine in Regulating Intensity of Autophagy to Treat PKD

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Medicinal Plant 2018年第4期9卷 97-101,106页

作者： Guangqiang MA Yan LIN Hanfeng CUI Qinglong SHU Hongjiao WAN Jiangxi University of Traditional Chinese Medicine

Nearly all cells have primary cilia( PC) composed of microtubules,primary cilia mainly functioning as sensing various signals of the environment and coordinating intracellular signaling pathways. Autophagy is an adaptive response of cells to environmental stress such as starvation/inflammation and infection. Many ciliopathies may induce autophagy. Polycystic kidney disease( PKD) is the most common ciliopathy,with the incidence of 1/500 to 1/1 000 in the world. A typical symptom of the PKD is the chronic development of multiple renal cysts that may eventually develop into advanced kidney disease. Sophoridine is an alkaloid extracted from the traditional Chinese medicinal plant Sophora alopecuroides L. It is a new antitumor drug which has the function of inducing cell autophagy. This paper mainly discussed the possibility of treating PKD through sophoridine inducing autophagy.

关键词： Autophagy Ciliogenesis ciliopathy Primary cilium

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