Congenital disorders of glycosylation

Ivanov, Dmitry O.; Олегович, Иванов Дмитрий; Novikova, V.P.; Павловна, Новикова Валерия; Pokhlebkina, Alevtina A.; Алексеевна, Похлебкина Алевтина

doi:10.17816/ped935-15

Cited by 9 publications

(3 citation statements)

References 45 publications

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“…Defects in the N-glycosylation of proteins are the most common causes of genetically determined diseases in which the synthesis of glycans, their attachment to glycoproteins and glycolipids and the synthesis of glycosylphosphatidylinositol are impaired [35]. Liver damage is a hallmark of almost all glycosylation disorders.…”

Section: Resultsmentioning

confidence: 99%

Finding Predictors of Leg Defects in Pigs Using CNV-GWAS

Getmantseva,

Kolosova,

Fede

et al. 2023

Genes

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One of the most important areas of modern genome research is the search for meaningful relationships between genetic variants and phenotypes. In the livestock field, there has been research demonstrating the influence of copy number variants (CNVs) on phenotypic variation. Despite the wide range in the number and size of detected CNVs, a significant proportion differ between breeds and their functional effects are underestimated in the pig industry. In this work, we focused on the problem of leg defects in pigs (lumps/growths in the area of the hock joint on the hind legs) and focused on searching for molecular genetic predictors associated with this trait for the selection of breeding stock. The study was conducted on Large White pigs using three CNV calling tools (PennCNV, QuantiSNP and R-GADA) and the CNVRanger association analysis tool (CNV-GWAS). As a result, the analysis identified three candidate CNVRs associated with the formation of limb defects. Subsequent functional analysis suggested that all identified CNVs may act as potential predictors of the hock joint phenotype of pigs. It should be noted that the results obtained indicate that all significant regions are localized in genes (CTH, SRSF11, MAN1A1 and LPIN1) responsible for the metabolism of amino acids, fatty acids, glycerolipids and glycerophospholipids, thereby related to the immune response, liver functions, content intramuscular fat and animal fatness. These results are consistent with previously published studies, according to which a predisposition to the formation of leg defects can be realized through genetic variants associated with the functions of the liver, kidneys and hematological characteristics.

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Section: Resultsmentioning

confidence: 99%

Finding Predictors of Leg Defects in Pigs Using CNV-GWAS

Getmantseva,

Kolosova,

Fede

et al. 2023

Genes

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“…Transferrin belongs to the negative acute phase proteins, and its content in the blood decreases during an inflammatory reaction [ 62 ]. Decreased sialylation of serum transferrin is used as a screening test for chronic alcohol use [ 63 ] and congenital disorders of glycosylation [ 64 , 65 ]. At the same time, in persons with alcohol dependence, there is an increase in the concentration of SA in the blood serum [ 66 ].…”

Section: Clinical and Diagnostic Significance Of The Determination Of...mentioning

confidence: 99%

Clinical and Diagnostic Significance of Sialic Acids Determination in Biological Material

Vol'khina

Butolin

2022

Biochem. Moscow Suppl. Ser. B

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Sialic acids (SA) are neuraminic acid derivatives, located at the terminal position in the chains of monosaccharide residues of various glycoconjugates. SA play a dual role: they either mask recognition sites, or, on the contrary, represent biological targets that can be recognized by receptor proteins and serve as ligands. The desialylation/sialylation processes can be considered as a dynamic modification regulated by sialyltransferases and sialidases in response to external or internal stimuli. This review describes the structural and functional diversity and the potential use of SA fractions as biomarkers for various pathological conditions. Almost any extreme impact on the body and inflammatory processes are accompanied by an increase in the level of both total and free SA in the blood and tissues. Possible reasons for the increase of sialoglycoconjugate metabolism indicators in biological material include: (i) activation of the hepatocyte synthesis and secretion of various acute-phase proteins, many of which are sialoglycoproteins, (ii) impaired membrane integrity and destruction of body cells, (iii) high activity of sialidases (neurominidases) and sialyltransferases. Most acute and chronic liver diseases are characterized by the decrease in the total level of SA in the blood serum (because many plasma proteins are synthesized and glycosylated in hepatocytes). Aberrant sialylation results in changes of sialoglycoconjugate structure, its ability to perform biological functions and sialoglycoconjugate half-life. Glycosylation is the most common post-translational modification of proteins in the virus, which not only promotes the formation of specific conformation of viral proteins, but also modulates their interaction with receptors and affects host cell recognition, viral replication and infectivity. Serum total SA concentration increases in some benign and inflammatory conditions, which indicates a lack of specificity and limits their use for early detection and screening of neoplastic diseases. Clinical and diagnostic value of determining the sialoglycoconjugate metabolic indicators, including changes in the content of both SA fractions and specific proteins in various biological fluids and tissues, consists in establishing the causes and mechanisms of biochemical changes in the body in certain diseases. In combination with the measurement of existing markers, they can be used to improve diagnosis, staging and monitoring of therapeutic response in some pathological conditions where the need for specificity is less than for specific diagnostics.

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“…Синтез N-гликанов происходит в 3 этапа: образование нуклеотидсвязанных сахаров, сборка (в цитозоле и эндоплазматическом ретикулуме) и обработка (в аппарате Гольджи). Синтез О-гликанов в основном происходит в аппарате Гольджи [5]. О-гликаны, расположенные на муциноподобном домене дистрогликана, разделяют на 3 группы: M1, M2, M3 (рис.…”

Section: лекции и обзорыunclassified

Clinical and genetic characteristics of congenital muscular dystrophies (part 2)

Чаусова

Рыжкова

Поляков

2020

Neuromuscular Diseases

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Dystroglycanopathy is one of the groups of congenital muscular dystrophies, the occurrence of which is associated with a disorder of α-dystroglycan glycosylation. To date, 18 genes responsible for the development of this condition are known. The 2nd part of this review presents the classification, phenotypic forms, clinical features, pathogenesis and etiology of this type of congenital muscular dystrophies. In addition, the issues of molecular diagnosis of congenital muscular dystrophies are considered and information on modern developments in the treatment of this pathology is provided.

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Congenital disorders of glycosylation

Cited by 9 publications

References 45 publications

Finding Predictors of Leg Defects in Pigs Using CNV-GWAS

Finding Predictors of Leg Defects in Pigs Using CNV-GWAS

Clinical and Diagnostic Significance of Sialic Acids Determination in Biological Material

Clinical and genetic characteristics of congenital muscular dystrophies (part 2)

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