Search results for "APOB"
showing 10 items of 32 documents
Frailty syndrome in community care – tips for patients and caregivers
2017
Zespół słabości (ZS) jest dynamicznym stanem charakteryzującym się zmniejszeniem fizjologicznych rezerw organizmu, osłabieniem odporności na czynniki stresogenne oraz zaburzeniami funkcjonowania układów ciała. W ZS dochodzi do zmniejszenia masy ciała i siły mięśniowej, problemów z poruszaniem się, utrzymaniem równowagi oraz do zmniejszenia aktywności fizycznej. Wyróżniamy trzy stadia zespołu słabości: wczesny ZS (pre- -frail), zespół słabości (frail) oraz powikłania zespołu słabości. Głównym czynnikiem ryzyka wystąpienia ZS jest wiek podeszły, ale znaczenie mają również czynniki genetyczne, środowiskowe, styl życia oraz choroby współistniejące. Do rozpoznania ZS stosuje się m.in. skalę Frie…
Distinct immune evasion in APOBEC ‐enriched, HPV ‐negative HNSCC
2020
Immune checkpoint inhibition leads to response in some patients with head and neck squamous cell carcinoma (HNSCC). Robust biomarkers are lacking to date. We analyzed viral status, gene expression signatures, mutational load and mutational signatures in whole exome and RNA-sequencing data of the HNSCC TCGA dataset (n = 496) and a validation set (DKTK MASTER cohort, n = 10). Public single-cell gene expression data from 17 HPV-negative HNSCC were separately reanalyzed. APOBEC3-associated TCW motif mutations but not total single nucleotide variant burden were significantly associated with inflammation. This association was restricted to HPV-negative HNSCC samples. An APOBEC-enriched, HPV-negat…
Molecular diagnosis of hypobetalipoproteinemia: an ENID review.
2007
Abstract Primary hypobetalipoproteinemia (HBL) includes a group of genetic disorders: abetalipoproteinemia (ABL) and chylomicron retention disease (CRD), with a recessive transmission, and familial hypobetalipoproteinemia (FHBL) with a co-dominant transmission. ABL and CRD are rare disorders due to mutations in the MTP and SARA2 genes, respectively. Heterozygous FHBL is much more frequent. FHBL subjects often have fatty liver and, less frequently, intestinal fat malabsorption. FHBL may be linked or not to the APOB gene. Most mutations in APOB gene cause the formation of truncated forms of apoB which may or may be not secreted into the plasma. Truncated apoBs with a size below that of apoB-3…
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvi…
2015
Background Familial hypercholesterolemia (FH) is one of the commonest monogenic disorders, predominantly inherited as an autosomal dominant trait. When untreated, it results in early coronary heart disease. The vast majority of FH remains undiagnosed in Latvia. The identification and early treatment of affected individuals remain a challenge worldwide. Most cases of FH are caused by mutations in one of four genes, APOB, LDLR, PCSK9, or LDLRAP1. The spectrum of disease-causing variants is very diverse and the variation detection panels usually used in its diagnosis cover only a minority of the disease-causing gene variants. However, DNA-based tests may provide an FH diagnosis for FH patients…
Effects of fluvastatin slow-release (XL 80 mg) versus simvastatin (20 mg) on the lipid triad in patients with type 2 diabetes.
2005
The lipid triad is the association of small, dense (sd) low-density lipoprotein (LDL), low high-density lipoprotein (HDL), and hypertriglyceridemia, all of which play a role in coronary artery disease in patients with type 2 diabetes. Although statins have demonstrated clear positive effects on cardiovascular morbidity/mortality in patients with diabetes and on single components of the lipid triad, it remains controversial whether they affect all components of the triad in these patients. Therefore, we performed a single-center, parallel-group, prospective, randomized, open-label, blinded-endpoint (PROBE)-type comparison of fluvastatin extended-release (XL) 80 mg (n=48) and simvastatin 20 m…
Iedzimtu hiperholesterinēmiju izraisošo mutāciju noskaidrošana Latvijas populācijā
2015
Iedzimta hiperholesterinēmija (IH) ir nopietna ģenētiskā slimība, kurai raksturīgs paaugstināts zema blīvuma lipoproteīnu holesterīna daudzums asinīs. IH ir riska faktors sirds-asinsvadu slimībām. Šīs slimības cēlonis visbiežāk ir mutācijas četros gēnos – LDLR, APOB, PCSK9 un LDLRAP1. Darba mērķis bija noskaidrot IH fenotipu izraisošās mutācijas četros gēnos Latvijas populācijā, izmantojot liela apjoma paralēlās sekvenēšanas metodi. Darbā tika analizētas mutācijas 98 pacientos, kuriem ir aizdomas par IH. Ģenētisko variāciju noteikšanai tika izmantota jaunās paaudzes pusvadītāja sekvenēšanas metode. Rezultātā tika atrastas 97 dažādas nomaiņas, vairums no kurām ir APOB un LDLR gēnos, bet vism…
Evaluation Of Massive Parallel Sequencing As A Diagnostic Tool For Familial Hypercholesterolemia
2015
Abstract Familial hypercholesterolemia (FH) is one of the most common single gene disorders, which is mostly inherited as an autosomal dominant trait. The physical signs of FH are elevated low density lipoprotein cholesterol (LDL-C), elevated total cholesterol (TC) levels and tendon xantomas. Identification and early treatment of affected individuals is desirable and in lack of physical symptoms DNA-based diagnosis provides confirmation of diagnosis and enables early patient management. The majority of FH cases are caused by mutations in four genes (APOB, LADLR, PCSK9, and LDLRAP1). There are commercial kits available for testing of the 20 most common FH causing mutations, but the spectrum …
The production of 85 kDa N-terminal fragment of apolipoprotein B in mutant HepG2 cells generated by targeted modification of apoB gene occurs by ALLN…
2010
Abstract To study the mechanism of low levels of full length and truncated apoB in individuals heterozygous for apoB truncation, a non-sense mutation was introduced in one of the three alleles of apob gene of HepG2 cells by homologous recombination. Despite very low levels of apoB-82 (1–2%) in the media, a prominent N-terminal apoB protein of 85 kDa (apoB-15) was secreted that fractionated at d > 1.065 in density gradient ultracentrifugation. The mechanism of production of this short protein was studied by 35S-methionine pulse–chase experiment. Oleate prevented presecretory degradation of apoB-100 in the cell and resulted in increased secretion of newly synthesized apoB-100 with decreases i…
Mboat7 down-regulation by hyper-insulinemia induces fat accumulation in hepatocytes.
2020
Background: Naturally occurring variation in Membrane-bound O-acyltransferase domain-containing 7 (MBOAT7), encoding for an enzyme involved in phosphatidylinositol acyl-chain remodelling, has been associated with fatty liver and hepatic disorders. Here, we examined the relationship between hepatic Mboat7 down-regulation and fat accumulation. Methods: Hepatic MBOAT7 expression was surveyed in 119 obese individuals and in experimental models. MBOAT7 was acutely silenced by antisense oligonucleotides in C57Bl/6 mice, and by CRISPR/Cas9 in HepG2 hepatocytes. Findings: In obese individuals, hepatic MBOAT7 mRNA decreased from normal liver to steatohepatitis, independently of diabetes, inflammatio…
Liraglutide reduces postprandial hyperlipidaemia by increasing apoB48 catabolism and by reducing apoB48 production
2016
IF 6.080; International audience