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Inherited metabolic diseases

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https://www.readbyqxmd.com/read/29036556/deficit-in-pink1-parkin-mediated-mitochondrial-autophagy-at-late-stages-of-dystrophic-cardiomyopathy
#1
Chifei Kang, Myriam A Badr, Viktoriia Kyrychenko, Eeva-Liisa Eskelinen, Natalia Shirokova
Aims: Duchenne Muscular Dystrophy (DMD) is an inherited devastating muscle disease with severe and often lethal cardiac complications. Emerging evidence suggests that the evolution of the pathology in DMD is accompanied by the accumulation of mitochondria with defective structure and function. Here we investigate whether defects in the housekeeping autophagic pathway contribute to mitochondrial and metabolic dysfunctions in dystrophic cardiomyopathy. Methods and results: We employed various biochemical and imaging techniques to assess mitochondrial structure and function as well as to evaluate autophagy, and specific mitochondrial autophagy (mitophagy), in hearts of mdx mice, an animal model of DMD...
October 5, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/29033250/propionyl-coa-carboxylase-a-review
#2
REVIEW
Parith Wongkittichote, Nicholas Ah Mew, Kimberly A Chapman
Propionyl-CoA carboxylase (PCC) is the enzyme which catalyzes the carboxylation of propionyl-CoA to methylmalonyl-CoA and is encoded by the genes PCCA and PCCB to form a hetero-dodecamer. Dysfunction of PCC leads to the inherited metabolic disorder propionic acidemia, which can result in an affected individual presenting with metabolic acidosis, hyperammonemia, lethargy, vomiting and sometimes coma and death if not treated. Individuals with propionic acidemia also have a number of long term complications resulting from the dysfunction of the PCC enzyme...
October 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29032848/-ehlers-danlos-syndromes
#3
D-P Germain
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inheritable connective tissue disorders characterized by skin hyperextensibility, joint hypermobility and cutaneous fragility with delayed wound healing. Over and above these common features, they differ in the presence or absence of various organ and tissue abnormalities, and differences in genetic causal mechanisms and degree of severity. They are complex and multisystem diseases, with the majority being highly disabling because of major joint problems and neurosensory deficiencies, and in some cases, they may be life-threatening due to associated complications, especially vascular disorders...
October 9, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29018421/himar1-transposon-for-efficient-random-mutagenesis-in-aggregatibacter-actinomycetemcomitans
#4
Qinfeng Ding, Kai Soo Tan
Aggregatibacter actinomycetemcomitans is the primary etiological agent of aggressive periodontal disease. Identification of novel virulence factors at the genome-wide level is hindered by lack of efficient genetic tools to perform mutagenesis in this organism. The Himar1 mariner transposon is known to yield a random distribution of insertions in an organism's genome with requirement for only a TA dinucleotide target and is independent of host-specific factors. However, the utility of this system in A. actinomycetemcomitans is unknown...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29016355/genetic-analysis-of-fructose-1-6-bisphosphatase-fbpase-deficiency-in-nine-consanguineous-pakistani-families
#5
Sadaqat Ijaz, Muhammad Yasir Zahoor, Muhammad Imran, Khushnooda Ramzan, Munir Ahmad Bhinder, Hussain Shakeel, Muhammad Iqbal, Asim Aslam, Wasim Shehzad, Huma Arshad Cheema, Habib Rehman
BACKGROUND: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited metabolic disorder characterized by recurrent episodes of hypoglycemia, ketosis and lactic acidosis. FBPase is encoded by FBP1 gene and catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose-6-phosphate in the last step of gluconeogenesis. We report here FBP1 mutations in nine consanguineous Pakistani families affected with FBPase deficiency. METHODS: Nine families having one or two individuals affected with FBPase deficiency were enrolled over a period of 3 years...
October 9, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28992279/targeting-new-cellular-disease-pathways-in-autosomal-dominant-polycystic-kidney-disease
#6
Ming-Yang Chang, Albert C M Ong
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of end-stage renal failure. Understanding the molecular and cellular pathogenesis of ADPKD could help to identify new targets for treatment. The classic cellular cystic phenotype includes changes in proliferation, apoptosis, fluid secretion, extracellular matrix and cilia function. Hoever, recent research, suggests that the cellular cystic phenotype could be broader and that changes, such as altered metabolism, autophagy, inflammation, oxidative stress and epigenetic modification, could play important roles in the processes of cyst initiation, cyst growth or disease progression...
August 29, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28985203/cell-therapy-for-diverse-central-nervous-system-disorders-inherited-metabolic-diseases-and-autism
#7
REVIEW
Jessica M Sun, Joanne Kurtzberg
The concept of utilizing human cells for the treatment of medical conditions is not new. In its simplest form, blood product transfusion as treatment of severe hemorrhage has been practiced since the 1800s. The advent of hematopoietic stem cell transplantation (HSCT) began with the development of bone marrow transplantation for hematologic malignancies in the mid-1900s and is now standard of care for many hematologic disorders. In the past few decades, HSCT has expanded to additional sources of donor cells, a wider range of indications, and the development of novel cell products...
October 6, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28981526/association-between-polymorphisms-in-sex-hormones-synthesis-and-metabolism-and-prostate-cancer-aggressiveness
#8
Inmaculada Robles-Fernandez, Luis Javier Martinez-Gonzalez, Manrique Pascual-Geler, Jose Manuel Cozar, Ignacio Puche-Sanz, Maria Jose Serrano, Jose Antonio Lorente, Maria Jesus Alvarez-Cubero
Novel biomarkers for prostate cancer (PCa) diagnosis and prognosis are necessary to improve the accuracy of current ones employed in clinic. We performed a retrospective study between the association of several polymorphisms in the main genes involved in the synthesis and metabolism of sex hormones and PCa risk and aggressiveness. A total of 311 Caucasian men (155 controls and 156 patients) were genotyped for 9 SNPs in AR, CYP17A1, LHCGR, ESR1 and ESR2 genes. Diagnostic PSA serum levels, Gleason score, tumor stage, D´Amico risk and data of clinical progression were obtained for patients at the moment of the diagnosis and after 54 months of follow-up...
2017: PloS One
https://www.readbyqxmd.com/read/28980057/-morphological-characteristics-of-osteopetrosis
#9
REVIEW
J Zustin, M Amling, R Crazzolara, S Butscheidt, A Schulz, R Oheim
Osteopetrosis is a rare inherited bone disorder characterized by increased bone density owing to failure in bone resorption by the osteoclasts. The disease is genetically and histologically heterogeneous with a wide spectrum of microscopic findings. The histology varies from cases with a total absence of osteoclasts to bone biopsies characterized by high numbers of enlarged multinucleated osteoclasts on a background of sclerotic cancellous bone with or without additional defect of mineralization of the bone matrix...
October 4, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28969085/interleukin-27-polymorphisms-are-associated-with-premature-coronary-artery-disease-and-metabolic-parameters-in-the-mexican-population-the-genetics-of-atherosclerotic-disease-gea-mexican-study
#10
Rosalinda Posadas-Sánchez, Nonanzit Pérez-Hernández, José Manuel Rodríguez-Pérez, Ramón M Coral-Vázquez, Bladimir Roque-Ramírez, Luis Llorente, Guadalupe Lima, Carmina Flores-Dominguez, Teresa Villarreal-Molina, Carlos Posadas-Romero, Gilberto Vargas-Alarcón
Several studies suggest an important role of Interleukin-27 in the development of atherosclerosis. The aim of this study was to establish whether the IL-27p28 gene polymorphisms are associated with premature coronary artery disease and/or other cardiovascular risk factors. Four IL-27p28 gene polymorphisms were selected and genotyped in 1162 premature coronary artery disease cases and 1107 controls. rs26528 T and rs40837 A alleles were significantly associated with a lower risk of premature coronary artery disease under different inheritance models (Pdominant = 0...
September 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28968367/axonal-sensorimotor-polyneuropathies
#11
Yuebing Li
PURPOSE OF REVIEW: This article describes clinical features of axonal sensorimotor polyneuropathies based on selected etiologies. RECENT FINDINGS: Axonal sensorimotor polyneuropathies have been well described for some time. Recent advances include the assessment of the incidence of peripheral neuropathy in the elderly, the recognition of the limited influence of electrodiagnostic testing on the clinical management of uncomplicated axonal sensorimotor polyneuropathy, the development of guidelines for treatment of painful neuropathy, the identification of risk factors predisposing patients for chemotherapy-induced neuropathy, a report on the association of metabolic syndrome and idiopathic axonal sensorimotor neuropathy, and the availability of more cost-effective genetic testing for identifying inherited polyneuropathies...
October 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28965603/investigating-the-influence-of-standard-staining-procedures-on-the-copper-distribution-and-concentration-in-wilson-s-disease-liver-samples-by-laser-ablation-inductively-coupled-plasma-mass-spectrometry
#12
Oliver Hachmöller, Michaela Aichler, Kristina Schwamborn, Lisa Lutz, Martin Werner, Michael Sperling, Axel Walch, Uwe Karst
The influence of rhodanine and haematoxylin and eosin (HE) staining on the copper distribution and concentration in liver needle biopsy samples originating from patients with Wilson's disease (WD), a rare autosomal recessive inherited disorder of the copper metabolism, is investigated. In contemporary diagnostic of WD, rhodanine staining is used for histopathology, since rhodanine and copper are forming a red to orange-red complex, which can be recognized in the liver tissue using a microscope. In this paper, a laser ablation-inductively coupled plasma-mass spectrometry (LA-ICP-MS) method is applied for the analysis of eight different WD liver samples...
December 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/28957862/triglyceride-lowering-trials
#13
Anthony C Keech, Alicia J Jenkins
PURPOSE OF REVIEW: We provide an overview of current evidence about the independent role of high triglyceride levels for cardiovascular risk and for acute pancreatitis. RECENT FINDINGS: Natural experiments of Mendelian randomization have given us a deeper understanding about the molecular pathways involved in triglyceride metabolism. Individuals with low-triglyceride levels generally have lower rates of cardiovascular disease (CVD). There has been a significant growth in the development of new agents that modulate enzymes involved in a variety of aspects of triglyceride packaging into VLDL or chylomicron particles, and triglyceride catabolism...
September 27, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28946037/familial-hypercholesterolemia-in-primary-care-in-germany-diabetes-and-cardiovascular-risk-evaluation-targets-and-essential-data-for-commitment-of-treatment-detect-study
#14
Nina Schmidt, Burkhard Schmidt, Alexander Dressel, Ingrid Gergei, Jens Klotsche, Lars Pieper, Hubert Scharnagl, Marcus E Kleber, Winfried März, Hendrik Lehnert, David Pittrow, Günter Stalla, Hans-Ulrich Wittchen, Tanja B Grammer
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an inherited disorder of lipoprotein metabolism characterised by impaired removal of low-density lipoproteins (LDL) from the circulation, which leads to an increased risk of cardiovascular disease (CVD). This risk can be significantly lowered by early diagnosis and treatment. In Germany, reliable estimates of the prevalence of FH are lacking. We therefore examined the prevalence rate of FH in Germany in a primary care based cohort...
August 19, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28939177/hypophosphatasia
#15
Etienne Mornet
We review here clinical, pathophysiological, diagnostic, genetic and molecular aspects of Hypophosphatasia (HPP), a rare inherited metabolic disorder. The clinical presentation is a continuum ranging from a prenatal lethal form with no skeletal mineralization to a mild form with late adult onset presenting with nonpathognomonic symptoms. The prevalence of severe forms is low, whereas less severe forms are more frequently observed. The disease is caused by loss-of-function mutations in the ALPL gene encoding the Tissue Nonspecific Alkaline Phosphatase (TNSALP), a central regulator of mineralization...
September 19, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28933411/mitochondrial-dysfunction-in-lysosomal-storage-disorders
#16
REVIEW
Mario de la Mata, David Cotán, Marina Villanueva-Paz, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan M Suárez-Rivero, Gustavo Tiscornia, Manuel Oropesa-Ávila
Lysosomal storage diseases (LSDs) describe a heterogeneous group of rare inherited metabolic disorders that result from the absence or loss of function of lysosomal hydrolases or transporters, resulting in the progressive accumulation of undigested material in lysosomes. The accumulation of substances affects the function of lysosomes and other organelles, resulting in secondary alterations such as impairment of autophagy, mitochondrial dysfunction, inflammation and apoptosis. LSDs frequently involve the central nervous system (CNS), where neuronal dysfunction or loss results in progressive neurodegeneration and premature death...
October 11, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28926971/mini-review-the-contribution-of-intermediate-phenotypes-to-gxe-effects-on-disorders-of-body-composition-in-the-new-omics-era
#17
REVIEW
Edna J Nava-Gonzalez, Esther C Gallegos-Cabriales, Irene Leal-Berumen, Raul A Bastarrachea
Studies of gene-environment (GxE) interactions describe how genetic and environmental factors influence the risk of developing disease. Intermediate (molecular or clinical) phenotypes (IPs) are traits or metabolic biomarkers that mediate the effects of gene-environment influences on risk behaviors. Functional systems genomics discovery offers mechanistic insights into how DNA variations affect IPs in order to detect genetic causality for a given disease. Disorders of body composition include obesity (OB), Type 2 diabetes (T2D), and osteoporosis (OSTP)...
September 17, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28923712/il-15-polymorphisms-are-associated-with-subclinical-atherosclerosis-and-cardiovascular-risk-factors-the-genetics-of-atherosclerosis-disease-gea-mexican-study
#18
Javier Angeles-Martínez, Rosalinda Posadas-Sánchez, Nonanzit Pérez-Hernández, José Manuel Rodríguez-Pérez, José Manuel Fragoso, Eyerahi Bravo-Flores, Carlos Posadas-Romero, Gilberto Vargas-Alarcón
Interleukin IL-15 (IL-15) has been implicated in the development of coronary artery disease (CAD). The aim of the present study was to evaluate the role of IL-15 gene polymorphisms as susceptibility markers for development of subclinical atherosclerosis (SA) and cardiovascular risk factors in Mexican population. Four IL-15 gene polymorphisms (rs4956403, rs3806798, rs1057972 and rs10833) were analyzed in a group of 397 individuals with SA and 1120 controls. Under different inheritance models adjusted by traditional risk factors, the rs10833T allele was associated with increased risk of developing SA [OR=1...
September 15, 2017: Cytokine
https://www.readbyqxmd.com/read/28917829/a-chinese-boy-with-geleophysic-dysplasia-caused-by-compound-heterozygous-mutations-in-adamtsl2
#19
Dongxiao Li, Hui Dong, Hong Zheng, Jinqing Song, Xiyuan Li, Ying Jin, Yupeng Liu, Yanling Yang
Geleophysic dysplasia, belonging to the group of acromelic dysplasia, is a rare genetic disease. Two genes, FBN1 and ADAMTSL2, were known to be linked to this disorder. The disorder presents as extreme short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness, toe walking, skin thickening, progressive cardiac valvular thickening and characteristic facial features, including a round face with full cheeks. Here, we report the first Chinese case with geleophysic dysplasia type 1 based on clinical and genetic features...
September 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28914857/-characteristics-of-lipid-metabolism-and-the-cardiovascular-system-in-glycogenosis-types-i-and-iii
#20
N V Polenova, T V Strokova, A V Starodubova
Glycogen storage disease (GSD) is an inherited metabolic disorder characterized by early childhood lipid metabolic disturbances with potentially proatherogenic effects. The review outlines the characteristics of impaired lipid composition and other changes in the cardiovascular system in GSD types I and III. It analyzes the factors enabling and inhibiting the development of atherosclerosis in patients with GSD. The review describes the paradox of vascular resistance to the development of early atherosclerosis despite the proatherogenic composition of lipids in the patients of this group...
2017: Terapevticheskiĭ Arkhiv
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