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Keywords = LPIAT1

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8 pages, 1700 KB  
Case Report
Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review
by Luisa Ronzoni, Matteo Mureddu, Francesco Malvestiti, Vittoria Moretti, Cristiana Bianco, Giulia Periti, Margherita Baldassarri, Francesca Ariani, Anna Carrer, Serena Pelusi, Alessandra Renieri, Daniele Prati and Luca Valenti
Genes 2023, 14(8), 1633; https://doi.org/10.3390/genes14081633 - 16 Aug 2023
Cited by 4 | Viewed by 2591
Abstract
The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) protein is an acyltransferase catalyzing arachidonic acid incorporation into lysophosphatidylinositol. Patients with rare, biallelic loss-of-function variants of the MBOAT7 gene display intellectual disability with neurodevelopmental defects. The rs641738 inherited variant associated with reduced hepatic MBOAT7 expression has [...] Read more.
The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) protein is an acyltransferase catalyzing arachidonic acid incorporation into lysophosphatidylinositol. Patients with rare, biallelic loss-of-function variants of the MBOAT7 gene display intellectual disability with neurodevelopmental defects. The rs641738 inherited variant associated with reduced hepatic MBOAT7 expression has been linked to steatotic liver disease susceptibility. However, the impact of biallelic loss-of-function MBOAT7 variants on liver disease is not known. We report on a 2-year-old girl with MBOAT7-related intellectual disability and steatotic liver disease, confirming that MBOAT7 loss-of-function predisposes to liver disease. Full article
(This article belongs to the Collection Genetics and Genomics of Rare Disorders)
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12 pages, 560 KB  
Article
Genetic Susceptibility to Chronic Liver Disease in Individuals from Pakistan
by Asad Mehmood Raja, Ester Ciociola, Imran Nazir Ahmad, Faisal Saud Dar, Syed Muhammad Saqlan Naqvi, Muhammad Moaeen-ud-Din, Ghazala Kaukab Raja, Stefano Romeo and Rosellina Margherita Mancina
Int. J. Mol. Sci. 2020, 21(10), 3558; https://doi.org/10.3390/ijms21103558 - 18 May 2020
Cited by 13 | Viewed by 4542
Abstract
Chronic liver disease, with viral or non-viral etiology, is endemic in many countries and is a growing burden in Asia. Among the Asian countries, Pakistan has the highest prevalence of chronic liver disease. Despite this, the genetic susceptibility to chronic liver disease in [...] Read more.
Chronic liver disease, with viral or non-viral etiology, is endemic in many countries and is a growing burden in Asia. Among the Asian countries, Pakistan has the highest prevalence of chronic liver disease. Despite this, the genetic susceptibility to chronic liver disease in this country has not been investigated. We performed a comprehensive analysis of the most robustly associated common genetic variants influencing chronic liver disease in a cohort of individuals from Pakistan. A total of 587 subjects with chronic liver disease and 68 healthy control individuals were genotyped for the HSD17B13 rs7261356, MBOAT7 rs641738, GCKR rs1260326, PNPLA3 rs738409, TM6SF2 rs58542926 and PPP1R3B rs4841132 variants. The variants distribution between case and control group and their association with chronic liver disease were tested by chi-square and binary logistic analysis, respectively. We report for the first time that HSD17B13 variant results in a 50% reduced risk for chronic liver disease; while MBOAT7; GCKR and PNPLA3 variants increase this risk by more than 35% in Pakistani individuals. Our genetic analysis extends the protective role of the HSD17B13 variant against chronic liver disease and disease risk conferred by the MBOAT7; GCKR and PNPLA3 variants in the Pakistani population. Full article
(This article belongs to the Collection Feature Papers in Molecular Genetics and Genomics)
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18 pages, 2663 KB  
Article
LPIAT, a lyso-Phosphatidylinositol Acyltransferase, Modulates Seed Germination in Arabidopsis thaliana through PIP Signalling Pathways and is Involved in Hyperosmotic Response
by Denis Coulon, Lionel Faure, Magali Grison, Stéphanie Pascal, Valérie Wattelet-Boyer, Jonathan Clark, Marina Le Guedard, Eric Testet and Jean-Jacques Bessoule
Int. J. Mol. Sci. 2020, 21(5), 1654; https://doi.org/10.3390/ijms21051654 - 28 Feb 2020
Cited by 3 | Viewed by 4004
Abstract
Lyso-lipid acyltransferases are enzymes involved in various processes such as lipid synthesis and remodelling. Here, we characterized the activity of an acyltransferase from Arabidopsis thaliana (LPIAT). In vitro, this protein, expressed in Escherichia coli membrane, displayed a 2-lyso-phosphatidylinositol acyltransferase activity [...] Read more.
Lyso-lipid acyltransferases are enzymes involved in various processes such as lipid synthesis and remodelling. Here, we characterized the activity of an acyltransferase from Arabidopsis thaliana (LPIAT). In vitro, this protein, expressed in Escherichia coli membrane, displayed a 2-lyso-phosphatidylinositol acyltransferase activity with a specificity towards saturated long chain acyl CoAs (C16:0- and C18:0-CoAs), allowing the remodelling of phosphatidylinositol. In planta, LPIAT gene was expressed in mature seeds and very transiently during seed imbibition, mostly in aleurone-like layer cells. Whereas the disruption of this gene did not alter the lipid composition of seed, its overexpression in leaves promoted a strong increase in the phosphatidylinositol phosphates (PIP) level without affecting the PIP2 content. The spatial and temporal narrow expression of this gene as well as the modification of PIP metabolism led us to investigate its role in the control of seed germination. Seeds from the lpiat mutant germinated faster and were less sensitive to abscisic acid (ABA) than wild-type or overexpressing lines. We also showed that the protective effect of ABA on young seedlings against dryness was reduced for lpiat line. In addition, germination of lpiat mutant seeds was more sensitive to hyperosmotic stress. All these results suggest a link between phosphoinositides and ABA signalling in the control of seed germination Full article
(This article belongs to the Special Issue Plant Lipids: From Physiology to Biotechnological Applications)
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