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Inherited metabolic diseases

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https://www.readbyqxmd.com/read/28106113/genetic-risk-variants-for-metabolic-traits-in-arab-populations
#1
Prashantha Hebbar, Naser Elkum, Fadi Alkayal, Sumi Elsa John, Thangavel Alphonse Thanaraj, Osama Alsmadi
Despite a high prevalence of metabolic trait related diseases in Arabian Peninsula, there is a lack of convincingly identified genetic determinants for metabolic traits in this population. Arab populations are underrepresented in global genome-wide association studies. We genotyped 1965 unrelated Arab individuals from Kuwait using Cardio-MetaboChip, and tested SNP associations with 13 metabolic traits. Models based on recessive mode of inheritance identified Chr15:40531386-rs12440118/ZNF106/W->R as a risk variant associated with glycated-hemoglobin at close to 'genome-wide significant' p-value and five other risk variants 'nominally' associated (p-value ≤ 5...
January 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28100847/genetic-background-of-aberrant-thermogenin-expression-ucp1-in-obesity-leading-to-metabolic-syndrome
#2
Małgorzata Stosio, Agata Witkowicz, Anna Kowalska, Lidia Karabon
Cardiovascular and metabolic disturbances individually and interdependently lead to chronic pathological conditions observed in cardio-metabolic diseases (CMDs). In Europe, the morbidity and mortality caused by cardiovascular disease are the highest among all diseases. Therefore, it seems important to search for new and alternative therapies for obesity, which is the main cause of type 2 diabetes (T2D) and cardiovascular disease (CD). Great attention has been paid to the role of brown adipose tissue in fat burning and the possibility of transformation of the white adipose tissue to cells with brown adipose tissue function as a potential form of treatment of obesity...
December 31, 2016: Postȩpy Higieny i Medycyny Doświadczalnej
https://www.readbyqxmd.com/read/28100843/pathophysiology-and-molecular-basis-of-selected-metabolic-abnormalities-in-huntington-s-disease
#3
Jolanta Krzysztoń-Russjan
Huntington's disease (HD) is an incurable, devastating neurodegenerative disease with a known genetic background and autosomally dominant inheritance pattern. HTT gene mutation (mHTT) is associated with polymorphic fragment elongation above 35 repeats of the CAG triplet. The mHTT product is an altered protein with a poly-Q elongated fragment, with the highest expression determined in the central nervous system (CNS) and with differentiated expression outside the CNS. A drastic loss of striatal and deeper layers of the cerebral cortex neurons was determined in the CNS, but muscle and body weight mass loss with dysfunction of many organs was also observed...
December 30, 2016: Postȩpy Higieny i Medycyny Doświadczalnej
https://www.readbyqxmd.com/read/28100703/paternal-epigenetic-programming-evolving-metabolic-disease-risk
#4
Suzy Sj Hur, Jennifer E Cropley, Catherine M Suter
Parental health or exposures can affect the lifetime health outcomes of offspring, independently of inherited genotypes. Such 'epigenetic' effects occur over a broad range of environmental stressors, including defects in parental metabolism. While maternal metabolic effects are well documented, it has only recently been established that that there is also an independent paternal contribution to long-term metabolic health. Both paternal undernutrition and overnutrition can induce metabolic phenotypes in immediate offspring, and in some cases the induced phenotype can affect multiple generations, implying inheritance of an acquired trait...
January 18, 2017: Journal of Molecular Endocrinology
https://www.readbyqxmd.com/read/28095804/pulmonary-manifestations-in-niemann-pick-type-c-disease-with-mutations-in-npc2-gene-case-report-and-review-of-literature
#5
Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri, Frenny Sheth
BACKGROUND: Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ~5% cases are linked with NPC2 gene. CASE PRESENTATION: Case-1, a 14-months-old female presented with recurrent respiratory distress, failure to thrive and hepatosplenomegaly...
January 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28092090/prevalence-of-mucopolysaccharidosis-types-i-ii-and-vi-in-the-pediatric-and-adult-population-with-carpal-tunnel-syndrome-cts-retrospective-and-prospective-analysis-of-patients-treated-for-cts
#6
Mette Borch Nørmark, Nanna Kjaer, Allan Meldgaard Lund
BACKGROUND: We wanted to investigate whether the prevalence of mucopolysaccharidoses (MPS) I, II, and VI was higher than expected in a selected cohort of patients with carpal tunnel syndrome (CTS). CTS is a common finding in patients with MPS, and therefore we screened patients who had undergone surgery for CTS for undiagnosed MPS. PATIENTS AND METHODS: Patients who had been operated for CTS were found in databases from two hospitals. Furthermore, patients who had undergone surgery for CTS when under the age of 18 were retrieved from the National Patient Registry...
January 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28080075/cognitive-outcomes-in-early-treated-adults-with-phenylketonuria-pku-a-comprehensive-picture-across-domains
#7
Liana Palermo, Tarekegn Geberhiwot, Anita MacDonald, Ellie Limback, S Kate Hall, Cristina Romani
OBJECTIVE: Phenylketonuria (PKU) is an inherited metabolic disease which affects cognitive functions due to an inability to metabolize phenylalanine which leads to the accumulation of toxic by-products (Phe) in the brain. PKU can be effectively treated with a low phenylalanine diet, but some cognitive deficits remain. Studies have reported impairments, especially for processing speed and executive functions, but there is a lack of comprehensive assessment across cognitive domains. Moreover, it is important to establish outcomes in early treated adults with PKU (AwPKU) who have better metabolic control than groups previously reported in the literature...
January 12, 2017: Neuropsychology
https://www.readbyqxmd.com/read/28079896/impaired-embryonic-development-in-glucose-6-phosphate-dehydrogenase-deficient-caenorhabditis-elegans-due-to-abnormal-redox-homeostasis-induced-activation-of-calcium-independent-phospholipase-and-alteration-of-glycerophospholipid-metabolism
#8
Tzu-Ling Chen, Hung-Chi Yang, Cheng-Yu Hung, Meng-Hsin Ou, Yi-Yun Pan, Mei-Ling Cheng, Arnold Stern, Szecheng J Lo, Daniel Tsun-Yee Chiu
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a commonly pervasive inherited disease in many parts of the world. The complete lack of G6PD activity in a mouse model causes embryonic lethality. The G6PD-deficient Caenorhabditis elegans model also shows embryonic death as indicated by a severe hatching defect. Although increased oxidative stress has been implicated in both cases as the underlying cause, the exact mechanism has not been clearly delineated. In this study with C. elegans, membrane-associated defects, including enhanced permeability, defective polarity and cytokinesis, were found in G6PD-deficient embryos...
January 12, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28077491/sphingosine-1-phosphate-lyase-deficiency-causes-charcot-marie-tooth-neuropathy
#9
Derek Atkinson, Jelena Nikodinovic Glumac, Bob Asselbergh, Biljana Ermanoska, David Blocquel, Regula Steiner, Alejandro Estrada-Cuzcano, Kristien Peeters, Tinne Ooms, Els De Vriendt, Xiang-Lei Yang, Thorsten Hornemann, Vedrana Milic Rasic, Albena Jordanova
OBJECTIVE: To identify the unknown genetic cause in a nuclear family with an axonal form of peripheral neuropathy and atypical disease course. METHODS: Detailed neurologic, electrophysiologic, and neuropathologic examinations of the patients were performed. Whole exome sequencing of both affected individuals was done. The effect of the identified sequence variations was investigated at cDNA and protein level in patient-derived lymphoblasts. The plasma sphingoid base profile was analyzed...
January 11, 2017: Neurology
https://www.readbyqxmd.com/read/28067471/traditional-and-novel-tools-to-probe-the-mitochondrial-metabolism-in-health-and-disease
#10
REVIEW
Yanfei Zhang, José L Avalos
Mitochondrial metabolism links energy production to other essential cellular processes such as signaling, cellular differentiation, and apoptosis. In addition to producing adenosine triphosphate (ATP) as an energy source, mitochondria are responsible for the synthesis of a myriad of important metabolites and cofactors such as tetrahydrofolate, α-ketoacids, steroids, aminolevulinic acid, biotin, lipoic acid, acetyl-CoA, iron-sulfur clusters, heme, and ubiquinone. Furthermore, mitochondria and their metabolism have been implicated in aging and several human diseases, including inherited mitochondrial disorders, cardiac dysfunction, heart failure, neurodegenerative diseases, diabetes, and cancer...
January 9, 2017: Wiley Interdisciplinary Reviews. Systems Biology and Medicine
https://www.readbyqxmd.com/read/28065847/a-drosophila-model-of-gdap1-function-reveals-the-involvement-of-insulin-signalling-in-the-mitochondria-dependent-neuromuscular-degeneration
#11
Víctor López Del Amo, Martina Palomino-Schätzlein, Marta Seco-Cervera, José Luis García-Giménez, Federico Vicente Pallardó, Antonio Pineda-Lucena, Máximo Ibo Galindo
Charcot-Marie-Tooth disease is a rare peripheral neuropathy for which there is no specific treatment. Some forms of Charcot-Marie-Tooth are due to mutations in the GDAP1 gene. A striking feature of mutations in GDAP1 is that they have a variable clinical manifestation, according to disease onset and progression, histology and mode of inheritance. Studies in cellular and animal models have revealed a role of GDAP1 in mitochondrial morphology and distribution, calcium homeostasis and oxidative stress. To get a better understanding of the disease mechanism we have generated models of over-expression and RNA interference of the Drosophila Gdap1 gene...
January 6, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28063767/peroxisomal-dysfunction-in-age-related-diseases
#12
REVIEW
Cynthia M Cipolla, Irfan J Lodhi
Peroxisomes carry out many key functions related to lipid and reactive oxygen species (ROS) metabolism. The fundamental importance of peroxisomes for health in humans is underscored by the existence of devastating genetic disorders caused by impaired peroxisomal function or lack of peroxisomes. Emerging studies suggest that peroxisomal function may also be altered with aging and contribute to the pathogenesis of a variety of diseases, including diabetes and its related complications, neurodegenerative disorders, and cancer...
January 4, 2017: Trends in Endocrinology and Metabolism: TEM
https://www.readbyqxmd.com/read/28057105/-precision-nutrition-in-the-era-of-precision-medicine
#13
P Z Chen, H Wang
Precision medicine has been increasingly incorporated into clinical practice and is enabling a new era for disease prevention and treatment. As an important constituent of precision medicine, precision nutrition has also been drawing more attention during physical examinations. The main aim of precision nutrition is to provide safe and efficient intervention methods for disease treatment and management, through fully considering the genetics, lifestyle (dietary, exercise and lifestyle choices), metabolic status, gut microbiota and physiological status (nutrient level and disease status) of individuals...
December 6, 2016: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/28057010/update-on-lysinuric-protein-intolerance-a-multi-faceted-disease-retrospective-cohort-analysis-from-birth-to-adulthood
#14
Wladimir Mauhin, Florence Habarou, Stéphanie Gobin, Aude Servais, Anaïs Brassier, Coraline Grisel, Célina Roda, Graziella Pinto, Despina Moshous, Fahd Ghalim, Pauline Krug, Nelly Deltour, Clément Pontoizeau, Sandrine Dubois, Murielle Assoun, Louise Galmiche, Jean-Paul Bonnefont, Chris Ottolenghi, Jacques de Blic, Jean-Baptiste Arnoux, Pascale de Lonlay
BACKGROUND: Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y(+)LAT1. The disease is characterised by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are heterogeneous ranging from infiltrative lung disease, kidney failure to auto-immune complications. This retrospective study of all cases treated at Necker Hospital (Paris, France) since 1977 describes LPI in both children and adults in order to improve therapeutic management...
January 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28051253/antioxidant-diet-and-genotyping-as-tools-for-the-prevention-of-liver-disease
#15
R Di Francia, L Rinaldi, M Cillo, E Varriale, G Facchini, C D'Aniello, G Marotta, M Berretta
It is well-known that 75% of risk factors of chronic liver disease (CLD) are related to nutrition. These circumstances potentially progress towards liver steatosis, fibrosis and hepatocellular carcinoma (HCC). It still represents an enormous problem for the economy of public health worldwide. Furthermore, validated prevention programs could be the solution. Recent knowledge in understanding molecular determinants of energy liver metabolism and new genetic markers offers new insights into the pathogenesis of CLD and HCC...
December 2016: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28050582/data-on-the-phosphorylation-state-of-the-catalytic-serine-of-enzymes-in-the-%C3%AE-d-phosphohexomutase-superfamily
#16
Yingying Lee, Cristina Furdui, Lesa J Beamer
Most enzymes in the α-D-phosphohexomutase superfamily catalyze the reversible conversion of 1- to 6-phosphosugars. They play important roles in carbohydrate and sugar nucleotide metabolism, and participate in the biosynthesis of polysaccharides, glycolipids, and other exoproducts. Mutations in genes encoding these enzymes are associated with inherited metabolic diseases in humans, including glycogen storage disease and congenital disorders of glycosylation. Enzymes in the superfamily share a highly conserved active site serine that participates in the multi-step phosphoryl transfer reaction...
February 2017: Data in Brief
https://www.readbyqxmd.com/read/28050459/cardiovascular-abnormalities-in-egyptian-children-with-mucopolysaccharidoses
#17
Laila Selim, Nehal Abdelhamid, Emad Salama, Amera Elbadawy, Iman Gamaleldin, Mohamed Abdelmoneim, Abeer Selim
INTRODUCTION: The Mucopolysaccharidoses (MPS) are rare inherited metabolic disorders. They are characterized by the progressive systemic deposition of Glycosaminoglycans (GAGs). GAGs accumulate in the myocardium and the cardiac valves. Enzyme Replacement Therapy (ERT) is available for MPS I, II, and VI. However, ERT does not appear to improve cardiac valve disease in patients with valve disease present at the start of ERT. AIM: To evaluate the cardiac involvement in Egyptian children with MPS...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28045594/human-hprt1-gene-and-the-lesch-nyhan-disease-substitution-of-alanine-for-glycine-and-inversely-in-the-hgprt-enzyme-protein
#18
Khue Vu Nguyen, Robert K Naviaux, William L Nyhan
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report three novel independent mutations in the coding region of the HPRT1 gene from genomic DNA of (a) a carrier sister of two male patients with LND: c.569G>C, p.G190A in exon 8; and (b) two LND affected male patients unrelated to her who had two mutations: c.648delC, p.Y216X, and c.653C>G, p.A218G in exon 9...
January 3, 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/28039434/autophagy-wins-the-2016-nobel-prize-in-physiology-or-medicine-breakthroughs-in-baker-s-yeast-fuel-advances-in-biomedical-research
#19
Beth Levine, Daniel J Klionsky
Autophagy is an ancient pathway in which parts of eukaryotic cells are self-digested within the lysosome or vacuole. This process has been studied for the past seven decades; however, we are only beginning to gain a molecular understanding of the key steps required for autophagy. Originally characterized as a hormonal and starvation response, we now know that autophagy has a much broader role in biology, including organellar remodeling, protein and organelle quality control, prevention of genotoxic stress, tumor suppression, pathogen elimination, regulation of immunity and inflammation, maternal DNA inheritance, metabolism, and cellular survival...
December 30, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28030845/withdrawn-could-some-epigenetic-modifications-hold-the-key-to-opposing-the-metabolic-syndrome
#20
REVIEW
Giovanni Tarantino, Matteo Nicola Di Minno, Carmine Finelli
Ahead of Print article withdrawn by publisher.
December 21, 2016: Oncotarget
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