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Mitochondrial hepatopathy

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https://www.readbyqxmd.com/read/29783990/severe-hepatopathy-and-neurological-deterioration-after-start-of-valproate-treatment-in-a-6-year-old-child-with-mitochondrial-tryptophanyl-trna-synthetase-deficiency
#1
Elise Vantroys, Joél Smet, Arnaud V Vanlander, Sarah Vergult, Ruth De Bruyne, Frank Roels, Hedwig Stepman, Herbert Roeyers, Björn Menten, Rudy Van Coster
BACKGROUND: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype, Parkinson-like phenotype). RESULTS: Here, we report on a subject who presented with early developmental delay, motor weakness and intellectual disability and who was considered during several years as having a non-progressive encephalopathy...
May 21, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29782205/nad-repletion-produces-no-therapeutic-effect-in-mice-with-respiratory-chain-complex-iii-deficiency-and-chronic-energy-deprivation
#2
Janne Purhonen, Jayasimman Rajendran, Saara Tegelberg, Olli-Pekka Smolander, Eija Pirinen, Jukka Kallijärvi, Vineta Fellman
Biosynthetic precursors of NAD+ can replenish a decreased cellular NAD+ pool and, supposedly via sirtuin (SIRT) deacetylases, improve mitochondrial function. We found decreased hepatic NAD+ concentration and downregulated biosynthesis in Bcs1lp.S78G knock-in mice with respiratory chain complex III deficiency and mitochondrial hepatopathy. Aiming at ameliorating disease progression via NAD+ repletion and improved mitochondrial function, we fed these mice nicotinamide riboside (NR), a NAD+ precursor. A targeted metabolomics verified successful administration and suggested enhanced NAD+ biosynthesis in the treated mice, although hepatic NAD+ concentration was unchanged at the end point...
May 21, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29618761/qil1-dependent-assembly-of-micos-complex-lethal-mutation-in-c19orf70-resulting-in-liver-disease-and-severe-neurological-retardation
#3
J Gödiker, M Grüneberg, I DuChesne, J Reunert, S Rust, C Westermann, Y Wada, G Classen, C D Langhans, K P Schlingmann, R J Rodenburg, R Pohlmann, T Marquardt
Seven subunits of the mitochondrial contact site and cristae junction (CJ) organizing system (MICOS) in humans have been recently described in function and structure. QIL1 (also named MIC13) is a small complex that is crucial for the maintenance and assembling of MICOS. A novel mutation of an essential splice site in the C19orf70 gene encoding QIL1 induces severe mitochondrial encephalopathy, hepatopathy and lactate acidosis consistent with psychomotor retardation. In addition, bilateral kidney stones were observed...
June 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29551309/mitochondrial-%C3%AE-oxidation-of-saturated-fatty-acids-in-humans
#4
REVIEW
María M Adeva-Andany, Natalia Carneiro-Freire, Mónica Seco-Filgueira, Carlos Fernández-Fernández, David Mouriño-Bayolo
Mitochondrial β-oxidation of fatty acids generates acetyl-coA, NADH and FADH2 . Acyl-coA synthetases catalyze the binding of fatty acids to coenzyme A to form fatty acyl-coA thioesters, the first step in the intracellular metabolism of fatty acids. l-carnitine system facilitates the transport of fatty acyl-coA esters across the mitochondrial membrane. Carnitine palmitoyltransferase-1 transfers acyl groups from coenzyme A to l-carnitine, forming acyl-carnitine esters at the outer mitochondrial membrane. Carnitine acyl-carnitine translocase exchanges acyl-carnitine esters that enter the mitochondria, by free l-carnitine...
March 15, 2018: Mitochondrion
https://www.readbyqxmd.com/read/29343773/mitochondrial-mutations-in-cholestatic-liver-disease-with-biliary-atresia
#5
Hong Koh, Gun-Seok Park, Sun-Mi Shin, Chang Eon Park, Seung Kim, Seok Joo Han, Huy Quang Pham, Jae-Ho Shin, Dong-Woo Lee
Biliary atresia (BA) results in severe bile blockage and is caused by the absence of extrahepatic ducts. Even after successful hepatic portoenterostomy, a considerable number of patients are likely to show progressive deterioration in liver function. Recent studies show that mutations in protein-coding mitochondrial DNA (mtDNA) genes and/or mitochondrial genes in nuclear DNA (nDNA) are associated with hepatocellular dysfunction. This observation led us to investigate whether hepatic dysfunctions in BA is genetically associated with mtDNA mutations...
January 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29225680/presumed-acute-fatty-liver-of-pregnancy-following-influenza-a-hepatitis
#6
Adam Morton
Acute fatty liver of pregnancy is a rare mitochondrial hepatopathy characterised by microvesicular fatty infiltration, and is believed to be due to impaired fatty acid oxidation. Hepatitis following influenza virus infection is uncommon. Rarely influenza virus infection may be complicated by Reye's syndrome, another hepatic microvesicular fat disease. A case of influenza A hepatitis in third trimester of pregnancy, followed by the evelopment of presumed acute fatty liver of pregnancy is described in this report and a potential mechanism why this may have occurred is discussed...
December 2017: Obstetric Medicine
https://www.readbyqxmd.com/read/28962270/naringenin-accords-hepatoprotection-from-streptozotocin-induced-diabetes-in-vivo-by-modulating-mitochondrial-dysfunction-and-apoptotic-signaling-cascade
#7
Radhika Kapoor, Poonam Kakkar
Diabetic complications cause noticeable liver damage, which finally progresses to diabetic hepatopathy. Nutritive antioxidants not only reduce the liver damage, but also prevent it by modulating the release of various proteins involved in apoptotic signaling cascades. This study explores the molecular mechanisms underlying diabetes-induced liver damage and its modulation by naringenin. Antioxidant status, liver & kidney biomarker enzymes, reactive oxygen species (ROS) generation, mitochondrial membrane potential, expression of apoptotic proteins like Bax (bcl-2 associated X), Bcl-2 (b-cell Lymhoma-2), Caspase-3, Caspase-9, AIF (Apoptosis inducing factor) and Endo-G (Endonuclease-G) were studied in streptozotocin induced diabetic rats...
2014: Toxicology Reports
https://www.readbyqxmd.com/read/28757868/-13-c-methacetin-breath-test-for-assessment-of-microsomal-liver-function-methodology-and-clinical-application
#8
REVIEW
Katarzyna Gorowska-Kowolik, Agata Chobot, Jaroslaw Kwiecien
Assessment of the liver function, and the need of constant monitoring of the organ's capacity, concerns not only patients with primary liver diseases, but also those at risk of hepatopathies secondary to other chronic diseases. Most commonly, the diagnostics is based on measurements of static biochemical parameters, which allow us to draw conclusions only indirectly about the function and the degree of damage of the organ. On the other hand, liver biopsy is an invasive procedure and therefore it is associated with a considerable risk of complications...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28575497/loss-of-hepatic-lrpprc-alters-mitochondrial-bioenergetics-regulation-of-permeability-transition-and-trans-membrane-ros-diffusion
#9
Alexanne Cuillerier, Shamisa Honarmand, Virgilio J J Cadete, Matthieu Ruiz, Anik Forest, Sonia Deschênes, Claudine Beauchamp, Guy Charron, John D Rioux, Christine Des Rosiers, Eric A Shoubridge, Yan Burelle
The French-Canadian variant of Leigh Syndrome (LSFC) is an autosomal recessive oxidative phosphorylation (OXPHOS) disorder caused by a mutation in LRPPRC, coding for a protein involved in the stability of mitochondrially-encoded mRNAs. Low levels of LRPPRC are present in all patient tissues, but result in a disproportionately severe OXPHOS defect in the brain and liver, leading to unpredictable subacute metabolic crises. To investigate the impact of the OXPHOS defect in the liver, we analyzed the mitochondrial phenotype in mice harboring an hepatocyte-specific inactivation of Lrpprc...
August 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28559828/multisystem-disease-including-eosinophilia-and-progressive-hyper-creatine-kinase-emia-over-10-years-suggests-mitochondrial-disorder
#10
Josef Finsterer, Johannes Huber
BACKGROUND: Eosinophilia has not been reported as a manifestation of a mitochondrial disorder (MID). Here, we report a patient with clinical features suggesting a MID and permanent eosinophilia, multisystem disease, and progressive hyper-creatine-kinase (CK)-emia for at least 10 years. MATERIALS AND METHODS: Methods applied included a clinical exam, blood chemical investigations, electrophysiological investigations, imaging, and invasive cardiological investigations...
January 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28424480/ketogenic-diet-attenuates-hepatopathy-in-mouse-model-of-respiratory-chain-complex-iii-deficiency-caused-by-a-bcs1l-mutation
#11
Janne Purhonen, Jayasimman Rajendran, Matthias Mörgelin, Kristiina Uusi-Rauva, Shintaro Katayama, Kaarel Krjutskov, Elisabet Einarsdottir, Vidya Velagapudi, Juha Kere, Matti Jauhiainen, Vineta Fellman, Jukka Kallijärvi
Mitochondrial disorders are among the most prevalent inborn errors of metabolism but largely lack treatments and have poor outcomes. High-fat, low-carbohydrate ketogenic diets (KDs) have shown beneficial effects in mouse models of mitochondrial myopathies, with induction of mitochondrial biogenesis as the suggested main mechanism. We fed KD to mice with respiratory chain complex III (CIII) deficiency and progressive hepatopathy due to mutated BCS1L, a CIII assembly factor. The mutant mice became persistently ketotic and tolerated the KD for up to 11 weeks...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28315632/mitochondrial-disorders-in-adults
#12
A Toscano, O Musumeci
Mitochondrial Disorders (MD) include a heterogeneous group of inherited disorders due to molecular defects mainly affecting the mitochondrial oxidative phosphorylation system. Because the respiratory chain is under control of two different genomes (nuclear DNA-nDNA and mitochondrial DNA-mtDNA), mitochondrial genetics is quite complex and may justify the extreme clinical heterogeneity of these diseases. Clinically, MD usually involve multiple tissues, mainly affecting organs with high energy request as central nervous system and skeletal muscle...
2014: Current Molecular Medicine
https://www.readbyqxmd.com/read/28286566/gastrointestinal-manifestations-of-mitochondrial-disorders-a-systematic-review
#13
REVIEW
Josef Finsterer, Marlies Frank
Mitochondrial disorders (MIDs) due to respiratory-chain defects or nonrespiratory chain defects are usually multisystem conditions [mitochondrial multiorgan disorder syndrome (MIMODS)] affecting the central nervous system (CNS), peripheral nervous system, eyes, ears, endocrine organs, heart, kidneys, bone marrow, lungs, arteries, and also the intestinal tract. Frequent gastrointestinal (GI) manifestations of MIDs include poor appetite, gastroesophageal sphincter dysfunction, constipation, dysphagia, vomiting, gastroparesis, GI pseudo-obstruction, diarrhea, or pancreatitis and hepatopathy...
January 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/27875839/severe-metabolic-acidosis-and-hepatopathy-due-to-leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate
#14
Elizabeth A Sellars, Tonya Balmakund, Katherine Bosanko, Brandi L Nichols, Stephen G Kahler, Yuri A Zarate
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a recently described autosomal recessive mitochondrial disease characterized by early onset of neurological symptoms, a biphasic clinical course, and distinctive neuroimaging. Pathogenic variants in the EARS2 gene that encode for mitochondrial glutamyl-tRNA synthetase are responsible for LTBL. Here, we describe the clinical course of an infant diagnosed with an acute crisis of LTBL and severe liver disease. This article illustrates the utility of blood lactate quantification in addition to basic metabolic testing and brain imaging in a child with low tone and poor growth...
April 2017: Neuropediatrics
https://www.readbyqxmd.com/read/27854233/cysteine-supplementation-may-be-beneficial-in-a-subgroup-of-mitochondrial-translation-deficiencies
#15
Marina Bartsakoulia, Juliane S Mϋller, Aurora Gomez-Duran, Patrick Yu-Wai-Man, Veronika Boczonadi, Rita Horvath
BACKGROUND: Mitochondrial encephalomyopathies are severe, relentlessly progressive conditions and there are very few effective therapies available to date. We have previously suggested that in two rare forms of reversible mitochondrial disease (reversible infantile respiratory chain deficiency and reversible infantile hepatopathy) supplementation with L-cysteine can improve mitochondrial protein synthesis, since cysteine is required for the 2-thiomodification of mitochondrial tRNAs. OBJECTIVES: We studied whether supplementation with L-cysteine or N-acetyl-cysteine (NAC) results in any improvement of the mitochondrial function in vitro in fibroblasts of patients with different genetic forms of abnormal mitochondrial translation...
August 30, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27809283/effect-of-high-carbohydrate-diet-on-plasma-metabolome-in-mice-with-mitochondrial-respiratory-chain-complex-iii-deficiency
#16
Jayasimman Rajendran, Nikica Tomašić, Heike Kotarsky, Eva Hansson, Vidya Velagapudi, Jukka Kallijärvi, Vineta Fellman
Mitochondrial disorders cause energy failure and metabolic derangements. Metabolome profiling in patients and animal models may identify affected metabolic pathways and reveal new biomarkers of disease progression. Using liver metabolomics we have shown a starvation-like condition in a knock-in (Bcs1l(c.232A>G)) mouse model of GRACILE syndrome, a neonatal lethal respiratory chain complex III dysfunction with hepatopathy. Here, we hypothesized that a high-carbohydrate diet (HCD, 60% dextrose) will alleviate the hypoglycemia and promote survival of the sick mice...
November 1, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27555780/alpers-huttenlocher-syndrome-the-role-of-a-multidisciplinary-health-care-team
#17
REVIEW
Russell P Saneto
Alpers-Huttenlocher syndrome (AHS) is a mitochondrial DNA-depletion syndrome. Age of onset is bimodal: early onset at 2-4 years and later adolescent onset at 17-24 years of age. Early development is usually normal, with epilepsy heralding the disorder in ~50% of patients. The onset of seizures is coupled with progressive cognitive decline. Hepatopathy is variable, and when present is a progressive dysfunction leading to liver failure in many cases. These features of seizures, cognitive degeneration, and hepatopathy represent the "classic triad" of AHS...
2016: Journal of Multidisciplinary Healthcare
https://www.readbyqxmd.com/read/26996063/mitochondrial-cytopathies
#18
REVIEW
Ayman W El-Hattab, Fernando Scaglia
Mitochondria are found in all nucleated human cells and perform a variety of essential functions, including the generation of cellular energy. Most of mitochondrial proteins are encoded by the nuclear DNA (nDNA) whereas a very small fraction is encoded by the mitochondrial DNA (mtDNA). Mutations in mtDNA or mitochondria-related nDNA genes can result in mitochondrial dysfunction which leads to a wide range of cellular perturbations including aberrant calcium homeostasis, excessive reactive oxygen species production, dysregulated apoptosis, and insufficient energy generation to meet the needs of various organs, particularly those with high energy demand...
September 2016: Cell Calcium
https://www.readbyqxmd.com/read/26757496/cyclic-vomiting-syndrome-in-multisystem-mitochondrial-disorder
#19
Josef Finsterer, John Hayman
BACKGROUND: Cyclic vomiting syndrome (CVS) is characterized by recurrent episodes of incapacitating nausea or vomiting accompanied by abdominal pain, interspersed with relatively symptom-free intervals that might last from a few weeks to months. There are a number of indications that CVS could be a manifestation of a mitochondrial disorder (MID). AIM: To illustrate how a MID may present with symptoms typical of CVS. CASE: A 31 year old female diagnosed as having CVS since birth had additional features of short stature, deafness, irritable bowel syndrome, cardiomyopathy with myocardial thickening in the absence of arterial hypertension, hepatopathy with steatosis hepatis, myopathy, and polyarthrosis...
July 2015: La Tunisie Médicale
https://www.readbyqxmd.com/read/26653362/peripheral-neuropathy-in-patients-with-long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency-a-follow-up-emg-study-of-12-patients
#20
Immonen Tuuli, Ahola Emilia, Toppila Jussi, Lapatto Risto, Tyni Tiina, Lauronen Leena
BACKGROUND: The neonatal screening and early start of the dietary therapy have improved the outcome of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). The acute symptoms of LCHADD are hypoketotic hypoglycemia, failure to thrive, hepatopathy and rhabdomyolysis. Long term complications are retinopathy and neuropathy. Speculated etiology of these long term complications are the accumulation and toxicity of hydroxylacylcarnitines and long-chain fatty acid metabolites or deficiency of essential fatty acids...
January 2016: European Journal of Paediatric Neurology: EJPN
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