scholarly journals Correction of cilia structure and function alleviates multi-organ pathology in Bardet–Biedl syndrome mice

2020 ◽  
Vol 29 (15) ◽  
pp. 2508-2522
Author(s):  
Hervé Husson ◽  
Nikolay O Bukanov ◽  
Sarah Moreno ◽  
Mandy M Smith ◽  
Brenda Richards ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Genetic Mutation ◽  
Structure And Function ◽  
Bardet Biedl Syndrome ◽  
Multiple Organs ◽  
Disease Modifying Therapy ◽  
Systemic Manifestations ◽  
Synthase Inhibitor ◽  
And Function ◽  
First Time

Abstract Bardet–Biedl syndrome (BBS) is a pleiotropic autosomal recessive ciliopathy affecting multiple organs. The development of potential disease-modifying therapy for BBS will require concurrent targeting of multi-systemic manifestations. Here, we show for the first time that monosialodihexosylganglioside accumulates in Bbs2−/− cilia, indicating impairment of glycosphingolipid (GSL) metabolism in BBS. Consequently, we tested whether BBS pathology in Bbs2−/− mice can be reversed by targeting the underlying ciliary defect via reduction of GSL metabolism. Inhibition of GSL synthesis with the glucosylceramide synthase inhibitor Genz-667161 decreases the obesity, liver disease, retinal degeneration and olfaction defect in Bbs2−/− mice. These effects are secondary to preservation of ciliary structure and signaling, and stimulation of cellular differentiation. In conclusion, reduction of GSL metabolism resolves the multi-organ pathology of Bbs2−/− mice by directly preserving ciliary structure and function towards a normal phenotype. Since this approach does not rely on the correction of the underlying genetic mutation, it might translate successfully as a treatment for other ciliopathies.

Strategies for Oral Delivery of Metal-Saturated Lactoferrin

2019 ◽  
Vol 20 (11) ◽  
pp. 1046-1051 ◽  
Author(s):  
Przemysław Gajda-Morszewski ◽  
Klaudyna Śpiewak-Wojtyła ◽  
Maria Oszajca ◽  
Małgorzata Brindell
Keyword(s):  
Biological Activity ◽  
Oral Delivery ◽  
Therapeutic Potential ◽  
Structure And Function ◽  
The Difference ◽  
And Function ◽  
First Time

Lactoferrin was isolated and purified for the first time over 50-years ago. Since then, extensive studies on the structure and function of this protein have been performed and the research is still being continued. In this mini-review we focus on presenting recent scientific efforts towards the elucidation of the role and therapeutic potential of lactoferrin saturated with iron(III) or manganese(III) ions. The difference in biological activity of metal-saturated lactoferrin vs. the unmetalated one is emphasized. The strategies for oral delivery of lactoferrin, are also reviewed, with particular attention to the metalated protein.

scholarly journals Influence of High Pressure on the Dimerization of ToxR, a Protein Involved in Bacterial Signal Transduction

2008 ◽  
Vol 74 (24) ◽  
pp. 7821-7823 ◽  
Author(s):  
Kai Linke ◽  
Nagarajan Periasamy ◽  
Matthias Ehrmann ◽  
Roland Winter ◽  
Rudi F. Vogel
Keyword(s):  
Escherichia Coli ◽  
Signal Transduction ◽  
High Pressure ◽  
Structure And Function ◽  
Transmembrane Segments ◽  
Bacterial Signal Transduction ◽  
Reporter Strains ◽  
And Function ◽  
First Time

ABSTRACT High hydrostatic pressure (HHP) is suggested to influence the structure and function of membranes and/or integrated proteins. We demonstrate for the first time HHP-induced dimer dissociation of membrane proteins in vivo with Vibrio cholerae ToxR variants in Escherichia coli reporter strains carrying ctx::lacZ fusions. Dimerization ceased at 20 to 50 MPa depending on the nature of the transmembrane segments rather than on changes in the ToxR lipid bilayer environment.

Molecular genetic diagnostics of Bardet-Biedl syndrome with an MPS-panel

2021 ◽  
pp. 26-35
Author(s):  
М.Д. Орлова ◽  
П. Гундорова ◽  
А.В. Поляков
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Genetic Diagnostics ◽  
Bardet Biedl Syndrome ◽  
Pathogenic Variants ◽  
Development Delay ◽  
Molecular Genetic Diagnostics ◽  
First Time

Синдром Барде-Бидля - аутосомно-рецессивное заболевание, характеризующееся ожирением, пигментной дегенерацией сетчатки, полидактилией, задержкой психоречевого развития и структурными повреждениями почек. В работе представлены результаты применения МПС-панели, включающей кодирующие последовательности и прилегающие интронные области 21 гена, ассоциированного с синдромом Барде-Бидля. Впервые была проведена молекулярно-генетическая диагностика в группе из сорока российских пациентов с синдромом Барде-Бидля из неродственных семей. В результате исследования удалось подтвердить диагноз молекулярно-генетическим методом у 40% пациентов (n=16). В генах BBS1, BBS7 и BBS10 встретились повторяющиеся варианты. Частота встречаемости патогенных и вероятно патогенных вариантов в генах BBS1 и BBS10 у российских пациентов соответствует зарубежным данным. Варианты в гене BBS7 встретились у пяти человек, у четырех из них был обнаружен патогенный вариант c.1967_1968delTAinsC, не встречающийся в других популяциях. Результаты, представленные в статье, показывают значительный вклад в заболеваемость синдромом Барде-Бидля в российской популяции патогенных вариантов в гене BBS7. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney defects. This study shows the results of using an MPS panel that includes coding sequences and intronic areas of 21 genes associated with Bardet-Biedl syndrome. For the first time molecular genetic testing has been provided for the group of 40 Russian patiens with Bardet-Biedl syndrome from unrelated families. As a result of the testing, diagnoses were confirmed for 40% of the patients (n=16). The genes BBS1, BBS7, BBS10 had recurrent variants. The frequency of pathogenic and likely pathogenic variants in the genes BBS1 and BBS10 among Russian patients matches the research data in other countries. Variants in the BBS7 gene were found for five people, four of them had a pathogenic variant c.1967_1968delTAinsC, which is not present among other populations. Results provided in this article show the significant role of pathogenic variants in the BBS7 gene in patients with Bardet-Biedl syndrome in Russian population.

scholarly journals Crab scars reveal survival advantage of left-handed snails

2006 ◽  
Vol 2 (3) ◽  
pp. 439-442 ◽  
Author(s):  
Gregory P Dietl ◽  
Jonathan R Hendricks
Keyword(s):  
Social Interactions ◽  
Structure And Function ◽  
Snail Species ◽  
Left Handedness ◽  
Left Handed ◽  
Selection Processes ◽  
Living Organisms ◽  
And Function ◽  
First Time ◽  
Crab Predation

Biological asymmetries are important elements of the structure and function of many living organisms. Using the Plio–Pleistocene fossil record of crab predation on morphologically similar pairs of right- and left-handed snail species, we show here for the first time, contrary to traditional wisdom, that rare left-handed coiling promotes survival from attacks by right-handed crabs. This frequency-dependent result influences the balance of selection processes that maintain left-handedness at the species level and parallels some social interactions in human cultures, such as sports that involve dual contests between opponents of opposite handedness.

scholarly journals Foliar colleters in Macrocarpaea obtusifolia (Gentianaceae): anatomy, ontogeny, and secretion

Botany ◽  
2014 ◽  
Vol 92 (1) ◽  
pp. 59-67 ◽  
Author(s):  
Valdnéa Casagrande Dalvi ◽  
Lucas Siqueira Cardinelli ◽  
Renata Maria Strozi Alves Meira ◽  
Aristéa Alves Azevedo
Keyword(s):  
Chemical Nature ◽  
Developmental Stages ◽  
Structure And Function ◽  
Histochemical Analysis ◽  
Secretory Structures ◽  
Standard Type ◽  
Vegetative Organs ◽  
New Information ◽  
And Function ◽  
First Time

Colleters are secretory structures located in reproductive and (or) vegetative organs of many eudicots. In Gentianaceae Juss., the presence of foliar colleters has been neglected, and anatomical and histochemical studies are scarce. The objectives of this study were to investigate the anatomy, ontogeny, and chemical nature of the secretion found in Macrocarpaea obtusifolia (Griseb.) Gilg colleters to establish a relationship between their structure and function and check whether these structures are similar to those described for other genera of the Gentianaceae and other families of the Gentianales. Samples of leaves at different developmental stages were collected and processed for anatomical and histochemical analysis using light microscopy and scanning electron microscopy. Colleters in M. obtusifolia have a protodermal origin, are of standard type, and are not vascularized. Young colleters are translucent and produce an abundant amount of sticky secretion. Later, they turn yellowish with a blackened region at the apex of the head, and the secretion, composed of polysaccharides and proteins, becomes less abundant and brownish. During senescence, the process begins with complete degradation and cell collapse of the secretory portion. The colleters of the standard type in M. obtusifolia have been observed for the first time in the Gentianaceae and represent additional evidence that reinforces how common this type of colleter is in the Gentianales. Such results provide new information on the anatomy, ontogeny, histochemistry, and colleter types of Gentianaceae.

Memoirs: On Ptychodera flava, Eschscholtz

1897 ◽  
Vol s2-40 (157) ◽  
pp. 165-184
Author(s):  
ARTHUR WILLEY
Keyword(s):  
Living Condition ◽  
Structure And Function ◽  
The Other ◽  
Detailed Structure ◽  
Pharyngeal Wall ◽  
Littoral Habitat ◽  
Collar Region ◽  
Ptychodera Flava ◽  
And Function ◽  
First Time

1. This is the first time that an Enteropneust with a free pharynx has been studied in the living condition. 2. The Ptychodera flava of Eschscholtz (char. emend. mihi) is rightly assigned by Spengel to his amended genus Ptychodera, as shown by the presence of the genital pleura, of external liver saccules, and by the length of the collar region. 3. P. flava belongs to Spengel's sub-genus Chlamydothorax, as shown by the ventral origin of the genital pleura, the diffuse gonads, and the free pharynx. 4. In the fact of the gill-slits being open directly to the exterior throughout their entire length, P. flava is more closely related to P. bahamensis than to any other described species. This is also indicated by the simple rows of paired liver saccules as opposed to the irregular multiple arrangement met with in P. erythræa. 5. The genus Ptychodera. (referring more especially to the sub-genus Chlamydothorax) probably represents an archaic type, as shown by the diffuse arrangement of the gonads, the free pharynx, and its littoral habitat; and it is probably not, as Spengel supposes it to be, phylogenetically younger than the other genera of Enteropneusta. 6. The gill-slits, branchial skeleton, and the temporary atrium formed by the apposition of the genital pleura in Ptychodera, offer a general homology to the corresponding structures in Amphioxus and the Ascidians, while presenting many differences in the details of their structure and relations. 7. Some of these differences are comparatively unimportant, and such as might well be expected to occur in distantly related forms with such totally different habits of existence, while others are to be accounted for by a wide interpretation of the principle of correlation between structure and function. 8. Many differences of detailed structure in the pharyngeal wall and its skeletal supports between the Enteropneusta and Amphioxus are to be correlated with the fact that, in the former, the tongue-bars are larger (often, as in P. flava, very much larger) than the primary bars, while in the latter the reverse condition obtains.

Bardet-Bidel Syndrome: A Case Report

2013 ◽  
Vol 12 (3) ◽  
pp. 67-69
Author(s):  
Kamal Hossain ◽  
Md Badruddoza
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Retinal Dystrophy ◽  
Learning Difficulties ◽  
Clinical Findings ◽  
Bardet Biedl Syndrome ◽  
Medical College ◽  
Characteristic Features ◽  
Human Genetic Disorder ◽  
And Function

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathic human genetic disorder characterized by retinal dystrophy, truncal obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical management of BBS. The diagnosis is based on clinical findings and can be confirmed by sequencing of known disease-causing genes in 80% of patients. BBS genes encode proteins that localize to the cilia and basal body and are involved in cilia biogenesis and function. Mutations lead to defective cilia accounting in part for the pleiotropic effects observed in BBS. We have presented a 11 years old female patient exhibiting characteristic features of Bardet Biedl syndrome (BBS) and then the literature is reviewed. Chattagram Maa-O-Shishu Hospital Medical College Journal Volume 12, Issue 3, September 2013: 67-69

scholarly journals IMGT® and 30 Years of Immunoinformatics Insight in Antibody V and C Domain Structure and Function

Antibodies ◽  
2019 ◽  
Vol 8 (2) ◽  
pp. 29 ◽  
Author(s):  
Lefranc ◽  
Lefranc
Keyword(s):  
Domain Structure ◽  
High Throughput Sequencing ◽  
Genome Mapping ◽  
Three Dimensional ◽  
Cell Receptor ◽  
Structure And Function ◽  
Antibody Engineering ◽  
New Science ◽  
And Function ◽  
First Time

At the 10th Human Genome Mapping (HGM10) Workshop, in New Haven, for the first time, immunoglobulin (IG) or antibody and T cell receptor (TR) variable (V), diversity (D), joining (J), and constant (C) genes were officially recognized as ‘genes’, as were the conventional genes. Under these HGM auspices, IMGT®, the international ImMunoGeneTics information system® (http://www.imgt.org), was created in June 1989 at Montpellier (University of Montpellier and CNRS). The creation of IMGT® marked the birth of immunoinformatics, a new science, at the interface between immunogenetics and bioinformatics. The accuracy and the consistency between genes and alleles, sequences, and three-dimensional (3D) structures are based on the IMGT Scientific chart rules generated from the IMGT-ONTOLOGY axioms and concepts: IMGT standardized keywords (IDENTIFICATION), IMGT gene and allele nomenclature (CLASSIFICATION), IMGT standardized labels (DESCRIPTION), IMGT unique numbering and IMGT Collier de Perles (NUMEROTATION). These concepts provide IMGT® immunoinformatics insights for antibody V and C domain structure and function, used for the standardized description in IMGT® web resources, databases and tools, immune repertoires analysis, single cell and/or high-throughput sequencing (HTS, NGS), antibody humanization, and antibody engineering in relation with effector properties.

scholarly journals Street lighting changes the composition of invertebrate communities

2012 ◽  
Vol 8 (5) ◽  
pp. 764-767 ◽  
Author(s):  
Thomas W. Davies ◽  
Jonathan Bennie ◽  
Kevin J. Gaston
Keyword(s):  
Ecological Impact ◽  
Time Of Day ◽  
Structure And Function ◽  
Light Pollution ◽  
Invertebrate Community ◽  
Biological Organization ◽  
Street Lighting ◽  
Artificial Lighting ◽  
And Function ◽  
First Time

Artificial lighting has been used to illuminate the nocturnal environment for centuries and continues to expand with urbanization and economic development. Yet, the potential ecological impact of the resultant light pollution has only recently emerged as a major cause for concern. While investigations have demonstrated that artificial lighting can influence organism behaviour, reproductive success and survivorship, none have addressed whether it is altering the composition of communities. We show, for the first time, that invertebrate community composition is affected by proximity to street lighting independently of the time of day. Five major invertebrate groups contributed to compositional differences, resulting in an increase in the number of predatory and scavenging individuals in brightly lit communities. Our results indicate that street lighting changes the environment at higher levels of biological organization than previously recognized, raising the potential that it can alter the structure and function of ecosystems.

Sign in / Sign up

Export Citation Format

Share Document