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Macronutrients
Published in Chuong Pham-Huy, Bruno Pham Huy, Food and Lifestyle in Health and Disease, 2022
Chuong Pham-Huy, Bruno Pham Huy
Glycolipids are glycosyl derivatives of lipids. Glycolipid is any compound containing one or more monosaccharide residues (glucose or galactose) bound by a glycosidic linkage to a hydrophobic moiety such as an acylglycerol, a sphingoid, a ceramide (N-acylsphingoid) or a prenyl phosphate (66, 119, 137–138). Cellular membranes contain several types of glycoproteins, glycolipids, and other lipids, including cholesterol, glycerophospholipids, and sphingomyelin. Glycolipids are essential for biological activities of the cell membrane (137). In addition, the roles of glycolipids are to facilitate cellular recognition, which is crucial to the immune response and the cell connections in tissues.
Sandhoff disease/GM2 gangliosidosis/deficiency of Hex A and Hex B subunit deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Patients with Sandhoff disease accumulate GM2 ganglioside in the brain [1]. The amounts found are 100–300 times the normal concentrations and quite similar to those of Tay-Sachs disease. In contrast to patients with Tay-Sachs disease, these patients also accumulate globoside, the common neutral glycolipid of erythrocyte and renal membranes, which has the same amino terminal sugar as GM2 ganglioside, N-acetyl galactosamine, in extraneural tissues, especially the liver, kidney, and spleen [17–20]. In the brain, there is storage of GM2; in addition, the asialo derivative of GM2 (GA2) accumulates, and this too is a difference from Tay-Sachs disease. Globoside may be demonstrated in urinary sediments and plasma [18]. The stored compounds are all structurally related. The asialo derivative differs from GM2 in the absence of the N-acetylneuraminic side chain, whereas globoside contains an extra galactose moiety. GA2 is found in the brain in Sandhoff disease in amounts 100 times normal [17]. Oligosaccharides and glycopeptides, which have a glycosidically bound N-acetylhexosamine, accumulate in various tissues, and they are excreted in the urine [21, 22], providing a readily accessible approach to diagnosis.
Diseases of the Nervous System
Published in George Feuer, Felix A. de la Iglesia, Molecular Biochemistry of Human Disease, 2020
George Feuer, Felix A. de la Iglesia
The abnormal biochemical findings include lipid disorders and high levels of glycolipids containing gangliosides occur in the brain. This may be a direct effect due to derangement of the metabolism of nerve cells or indirectly through changes in the connective tissue of the blood vessels or meninges. The molecular distribution of brain glycosides is also abnormal in Hurler’s syndrome. Increased amounts of monosialogangliosides, GM1, GM2, and GM3 are found, particularly the normally minor component GM2, Tay-Sachs ganglioside, GM3, and hematoside are enhanced. Slight increases of these monosialogangliosides are common in many degenerative neurological disorders, but they are less prominent than those in Hurler’s disease. Lysosomal acid β-galactosidase activity is markedly reduced in the brain, liver, spleen, and skin.
Association analysis of MTHFR (rs1801133 and rs1801131) and MTRR (rs1801394) gene polymorphisms towards the development of hypertension in the Bai population from Yunnan, China
Published in Clinical and Experimental Hypertension, 2023
Yongxin Liu, Chunping Xu, Yuqing Wang, Caiting Yang, Genyuan Pu, Le Zhang, Zhuang Wang, Pengyan Tao, Shenghe Hu, Mingming Lai
Patients with hypertension often have abnormal glucose or lipid metabolism. In fact, many researches focused on the influence of genetic factors on metabolic diseases, and some genetic polymorphisms have been reported to contribute to glycolipid metabolism. For example, KCNJ11, CDKAL1, and SLC2A2 gene polymorphisms could affect blood glucose level (27–29). PPM1K and UCP1 gene polymorphisms could increase TG level and decrease HDL-C level (30,31). However, APOA5 gene mutation could decrease the levels of TC, TG, and LDL-C (32). When we compared the clinical variables between hypertensive patients and the control group, significant changes were observed in FBG, TG, HDL-C, and APOA1. It was also reported that MTHFR C677T could affect the LDL-C level (33,34). Therefore, we focused on these known polymorphisms in the MTHFR gene with the biochemical variables of glycolipid metabolism. Our study showed that MTHFR C677T genetic variants could alter the levels of FBG, FMN, and APOA1 in patients with hypertension. However, Spiridonova et al. (35) found no association between MTHFR C677T and blood lipids in the western Siberian population. These contradictory results certified genetic heterogeneity across regions or ethnic groups.
The genetic background of Parkinson’s disease and novel therapeutic targets
Published in Expert Opinion on Therapeutic Targets, 2022
András Salamon, Dénes Zádori, László Szpisjak, Péter Klivényi, László Vécsei
β-glucocerebrosidase (GBA) heterozygous mutations are one of the most well-established risk factors of PD with variable penetrance depending on age [5]. The GBA gene encodes the lysosomal enzyme β-glucocerebrosidase, which has important roles in glycolipid metabolism (breakdown of glucocerebroside and glucosylsphingosine). Both autosomal recessive and dominant mutations increase the possibility of developing parkinsonism, however, the autosomal recessive form is more severe, and is called Gaucher disease, which is the most common lysosomal storage disease (with annual incidence of 1/60.000) [27]. From a clinical perspective, GBA-associated PD starts between the 4th and 8th decade (mean age of onset: 56.8 years). In this form of the disease there is a higher occurrence of postural instability with gait difficulty, dementia, dysautonomia and other psychiatric disturbances [5]. Pathologically, the brain alterations of patients with heterozygous GBA mutations are very similar to idiopathic PD patients, however, the cortical spreading of Lewy bodies are more prominent in some cases [19].
Systematic review on activity of liposomal encapsulated antioxidant, antibiotics, and antiviral agents
Published in Journal of Liposome Research, 2022
Reshna K. R, Preetha Balakrishnan, Sreerag Gopi
Phospholipid contains two major categories including glycerophospholipids and sphingolipids (categorized into sphingomyelin and glycolipid). The glycerophospholipids are considered as a backbone of liposome. The chemical structure of glycerophospholipids consists of a hydrophilic head group and a hydrophobic side chain. Different glycerophospholipids are obtained as a result of head group variation, for example, phosphatidylcholine (PC), phosphatidylethanolamine (PE), phosphatidylserine (PS), phosphatidylinositol (PI), phosphatidic acid (PA), phosphatidylglycerol (PG), and cardiolipin (CL). Decreased nonpolar moieties with varying lengths produce a wide range of different glycerophospholipids, such as dimyristoyl, dipalmitoyl, and distearoyl PC, among others. Furthermore, the type of bond formed between glycerol and aliphatic chains (ether or ester) results in the formation of distinct glycerophospholipids.