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Inherited metabolic diseases

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https://www.readbyqxmd.com/read/29684050/intronic-pah-gene-mutations-cause-a-splicing-defect-by-a-novel-mechanism-involving-u1snrnp-binding-downstream-of-the-5-splice-site
#1
Ainhoa Martínez-Pizarro, Maja Dembic, Belén Pérez, Brage S Andresen, Lourdes R Desviat
Phenylketonuria (PKU), one of the most common inherited diseases of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Recently, PAH exon 11 was identified as a vulnerable exon due to a weak 3' splice site, with different exonic mutations affecting exon 11 splicing through disruption of exonic splicing regulatory elements. In this study, we report a novel intron 11 regulatory element, which is involved in exon 11 splicing, as revealed by the investigated pathogenic effect of variants c...
April 23, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29676235/current-and-promising-therapies-in-autosomal-recessive-ataxias
#2
Vincent Picher-Martel, Nicolas Dupre
BACKGROUND & OBJECTIVE: Ataxia is clinically characterized by unsteady gait and imbalance. Cerebellar disorders may arise from many causes such as metabolic diseases, stroke or genetic mutations. The genetic causes are classified by mode of inheritance and include autosomal dominant, X-linked and autosomal recessive ataxias. Many years have passed since the description of Friedreich's ataxia, the most common autosomal recessive ataxia, and mutations in many other genes have now been described...
April 18, 2018: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/29669592/ggdonto-ontology-as-a-knowledge-base-for-genetic-diseases-and-disorders-of-glycan-metabolism-and-their-causative-genes
#3
Elena Solovieva, Toshihide Shikanai, Noriaki Fujita, Hisashi Narimatsu
BACKGROUND: Inherited mutations in glyco-related genes can affect the biosynthesis and degradation of glycans and result in severe genetic diseases and disorders. The Glyco-Disease Genes Database (GDGDB), which provides information about these diseases and disorders as well as their causative genes, has been developed by the Research Center for Medical Glycoscience (RCMG) and released in April 2010. GDGDB currently provides information on about 80 genetic diseases and disorders caused by single-gene mutations in glyco-related genes...
April 18, 2018: Journal of Biomedical Semantics
https://www.readbyqxmd.com/read/29661920/dhtkd1-deficiency-causes-charcot-marie-tooth-disease-in-mice
#4
Wang-Yang Xu, Houbao Zhu, Yan Shen, Ying-Han Wan, Xiao-Die Tu, Wen-Ting Wu, Lingyun Tang, Hong-Xin Zhang, Shun-Yuan Lu, Xiao-Long Jin, Jian Fei, Zhu-Gang Wang
DHTKD1, a part of 2-ketoadipic acid dehydrogenase complex, is involved in lysine and tryptophan catabolism. Mutations in DHTKD1 block the metabolic pathway and cause 2-aminoadipic and 2-oxoadipic aciduria (AMOXAD), an autosomal recessive inborn metabolic disorder. In addition, a nonsense mutation in DHTKD1 we identified previously causes Charcot-Marie-Tooth disease (CMT) type 2Q, one of the most common inherited neurological disorders affecting the peripheral nerves in the musculature. However, the comprehensive molecular mechanism underlying CMT2Q remains elusive...
April 16, 2018: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29653233/three-novel-variants-p-glu178lys-p-val245met-p-ser250phe-of-the-phenylalanine-hydroxylase-pah-gene-impair-protein-expression-and-function-in-vitro
#5
Yanan Zong, Ning Liu, Shanshan Ma, Ying Bai, Fangxia Guan, Xiangdong Kong
Phenylketonuria (PKU) is the most common inherited metabolic disease, an autosomal recessive disorder affecting >10,000 newborns each year globally. It can be caused by over 1000 different naturally occurring mutations in the phenylalanine hydroxylase (PAH) gene. We analyzed three novel naturally occurring PAH gene variants: p.Glu178Lys (c.532G>A), p.Val245Met (c.733G>A) and p.Ser250Phe (c.749C>T). The mutant effect on the PAH enzyme structure and function was predicted by bioinformatics software...
April 10, 2018: Gene
https://www.readbyqxmd.com/read/29648643/mutations-in-glycyl-trna-synthetase-impair-mitochondrial-metabolism-in-neurons
#6
Veronika Boczonadi, Kathrin Meyer, Humberto Gonczarowska-Jorge, Helen Griffin, Andreas Roos, Marina Bartsakoulia, Boglarka Bansagi, Giulia Ricci, Fanni Palinkas, René P Zahedi, Francesco Bruni, Brian Kaspar, Hanns Lochmüller, Kym M Boycott, Juliane S Müller, Rita Horvath
The nuclear-encoded glycyl-tRNA synthetase gene (GARS) is essential for protein translation in both cytoplasm and mitochondria. In contrast, different genes encode the mitochondrial and cytosolic forms of most other tRNA synthetases. Dominant GARS mutations were described in inherited neuropathies, while recessive mutations cause severe childhood-onset disorders affecting skeletal muscle and heart. The downstream events explaining tissue-specific phenotype-genotype relations remained unclear. We investigated the mitochondrial function of GARS in human cell lines and in the GarsC210R mouse model...
April 10, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29642504/alteration-of-hepatic-gene-expression-along-with-the-inherited-phenotype-of-acquired-fatty-liver-in-chicken
#7
Yonghong Zhang, Zhen Liu, Ranran Liu, Jie Wang, Maiqing Zheng, Qinghe Li, Huanxian Cui, Guiping Zhao, Jie Wen
Fatty liver is a widespread disease in chickens that causes a decrease in egg production and even death. The characteristics of the inherited phenotype of acquired fatty liver and the molecular mechanisms underlying it, however, are largely unknown. In the current study, fatty liver was induced in 3 breeds by a high-fat (HF) diet and a methionine choline-deficient (MCD) diet. The results showed that the dwarf Jingxing-Huang (JXH) chicken was more susceptible to fatty liver compared with the layer White Leghorns (WL) and local Beijing-You (BJY) breeds...
April 8, 2018: Genes
https://www.readbyqxmd.com/read/29623532/genome-editing-in-induced-pluripotent-stem-cells-using-crispr-cas9
#8
REVIEW
Ronen Ben Jehuda, Yuval Shemer, Ofer Binah
The development of the reprogramming technology led to generation of induced Pluripotent Stem Cells (iPSC) from a variety of somatic cells. Ever since, fast growing knowledge of different efficient protocols enabled the differentiation of these iPSCs into different cells types utilized for disease modeling. Indeed, iPSC-derived cells have been increasingly used for investigating molecular and cellular pathophysiological mechanisms underlying inherited diseases. However, a major barrier in the field of iPSC-based disease modeling relies on discriminating between the effects of the causative mutation and the genetic background of these cells...
April 6, 2018: Stem Cell Reviews
https://www.readbyqxmd.com/read/29622724/single-cell-transcriptomics-of-the-mouse-kidney-reveals-potential-cellular-targets-of-kidney-disease
#9
Jihwan Park, Rojesh Shrestha, Chengxiang Qiu, Ayano Kondo, Shizheng Huang, Max Werth, Mingyao Li, Jonathan Barasch, Katalin Suszták
Our understanding of kidney disease pathogenesis is limited by an incomplete molecular characterization of the cell types responsible for the organ's multiple homeostatic functions. To help fill this knowledge gap, we characterized 57,979 cells from healthy mouse kidneys using unbiased single-cell RNA sequencing. Based on gene expression patterns, we infer that inherited kidney diseases that arise from distinct genetic mutations but share the same phenotypic manifestation originate from the same cell differentiated type...
April 5, 2018: Science
https://www.readbyqxmd.com/read/29610923/psoriasis
#10
Mark Lebwohl
Psoriasis, an inherited disorder of the immune system, presents most commonly in the skin and joints but is also associated with cardiovascular, metabolic, and neuropsychiatric effects. Treatments include topical therapy for mild disease; phototherapy and oral therapy, such as retinoids and immunomodulating agents; and targeted biologic therapies that have revolutionized treatment of psoriasis and psoriatic arthritis. Primary care physicians should be aware of the systemic associations of psoriasis and the treatments available for this disorder...
April 3, 2018: Annals of Internal Medicine
https://www.readbyqxmd.com/read/29610180/blue-diaper-syndrome-and-pcsk1-mutations
#11
Felix Distelmaier, Diran Herebian, Claudia Atasever, Stefanie Beck-Woedl, Ertan Mayatepek, Tim M Strom, Tobias B Haack
Blue diaper syndrome (BDS) (Online Mendelian Inheritance in Man number 211000) is an extremely rare disorder that was first described in 1964. The characteristic finding is a bluish discoloration of urine spots in the diapers of affected infants. Additional clinical features of the first described patients included diarrhea, inadequate weight gain, hypercalcemia, and nephrocalcinosis. An intestinal defect of tryptophan absorption was postulated as the underlying pathology. However, functional evidence for this theory is lacking...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29610169/erythropoietic-protoporphyria-initial-diagnosis-with-cholestatic-liver-disease
#12
Amy Coffey, Daniel H Leung, Norma M Quintanilla
The porphyrias are a group of rare metabolic disorders that result from defects in heme biosynthesis. Erythropoietic protoporphyria (EPP) is the most common inherited porphyria in children and is diagnosed in most individuals after the onset of cutaneous manifestations. Hepatobiliary disease affects the minority of individuals with EPP and usually manifests in patients with an established diagnosis of EPP. We report on a classic but rare case of EPP that masqueraded as cholestasis. An 8-year-old boy was referred to the Hepatology Clinic after an abrupt onset of jaundice with a longstanding history of dermatitis...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29605508/apoptosis-inducing-factor-aif-in-physiology-and-disease-the-tale-of-a-repented-natural-born-killer
#13
REVIEW
Daniele Bano, Jochen H M Prehn
Apoptosis-inducing factor (AIF) is a mitochondrial oxidoreductase that contributes to cell death programmes and participates in the assembly of the respiratory chain. Importantly, AIF deficiency leads to severe mitochondrial dysfunction, causing muscle atrophy and neurodegeneration in model organisms as well as in humans. The purpose of this review is to describe functions of AIF and AIF-interacting proteins as regulators of cell death and mitochondrial bioenergetics. We describe how AIF deficiency induces pathogenic processes that alter metabolism and ultimately compromise cellular homeostasis...
March 23, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29604126/sam-syndrome-is-characterized-by-extensive-phenotypic-heterogeneity
#14
Shahar Taiber, Liat Samuelov, Janan Mohamad, Eran Cohen Barak, Ofer Sarig, Stavit Allon Shalev, Gilles Lestringant, Eli Sprecher
Severe skin dermatitis, multiple allergies and metabolic wasting (SAM) syndrome is a rare life-threatening inherited condition caused by bi-allelic mutations in DSG1 encoding desmoglein 1. The disease was initially reported to manifest with severe erythroderma, failure to thrive, atopic manifestations, recurrent infections, hypotrichosis and palmoplantar keratoderma. We present 3 new cases of SAM syndrome in 2 families and review the cases published so far. Whole exome and direct sequencing were used to identify SAM syndrome-causing mutations...
March 31, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29593177/molecular-pathogenesis-of-familial-wolff-parkinson-white-syndrome
#15
Miyamotoa Licht
Familial Wolff-Parkinson-White (WPW) syndrome is an autosomal dominant inherited disease and consists of a small percentage of WPW syndrome which exhibits ventricular pre-excitation by development of accessory atrioventricular pathway. A series of mutations in PRKAG2 gene encoding gamma2 subunit of 5'AMP-activated protein kinase (AMPK) has been identified as the cause of familial WPW syndrome. AMPK is one of the most important metabolic regulators of carbohydrates and lipids in many types of tissues including cardiac and skeletal muscles...
2018: Journal of Medical Investigation: JMI
https://www.readbyqxmd.com/read/29588429/hydroxyproline-metabolism-and-oxalate-synthesis-in-primary-hyperoxaluria
#16
Sonia Fargue, Dawn S Milliner, John Knight, Julie B Olson, W Todd Lowther, Ross P Holmes
Background Endogenous oxalate synthesis contributes to calcium oxalate stone disease and is markedly increased in the inherited primary hyperoxaluria (PH) disorders. The incomplete knowledge regarding oxalate synthesis complicates discovery of new treatments. Hydroxyproline (Hyp) metabolism results in the formation of oxalate and glycolate. However, the relative contribution of Hyp metabolism to endogenous oxalate and glycolate synthesis is not known. Methods To define this contribution, we performed primed, continuous, intravenous infusions of the stable isotope [15 N,13 C5 ]-Hyp in nine healthy subjects and 19 individuals with PH and quantified the levels of urinary13 C2 -oxalate and13 C2 -glycolate formed using ion chromatography coupled to mass detection...
March 27, 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29582519/peripheral-neuropathy-in-tangier-disease-a-literature-review-and-assessment
#17
Metin Mercan, Vildan Yayla, Serdar Altinay, Serhat Seyhan
Tangier disease (OMIM#205400) is a rare cause of inherited metabolic neuropathies characterized by marked deficiency of high-density lipoproteins and accumulation of cholesterol esters in various tissue resulting from reverse cholesterol transport deficiency. We report a case of a patient with Tangier disease with multifocal demyelinating neuropathy with conduction block who presents with winging scapula, tongue and asymmetric extremity weakness. We also present a review of all studies published from 1960 to 2017 regarding peripheral neuropathy in Tangier disease...
March 26, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29579554/clinical-and-electrophysiological-findings-in-patients-with-phenylketonuria-and-epilepsy-reflex-features
#18
Senay Yildiz Celik, Nerses Bebek, Candan Gurses, Betul Baykan, Aysen Gokyigit
OBJECTIVE: Phenylketonuria (PKU) is the most common form of amino acid metabolism disorders with autosomal recessive inheritance. The brain damage can be prevented by early diagnosis and a phenylalanine-restricted diet. Untreated or late-treated patients may show mental retardation and other cognitive dysfunctions, as well as motor disability and/or epilepsy. METHODS: Three patients with PKU and epilepsy were recognized to have reflex epileptic features, and there were ten consecutive adult patients with PKU and epilepsy who were evaluated retrospectively...
March 23, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29570792/genomics-studies-on-musical-aptitude-music-perception-and-practice
#19
REVIEW
Irma Järvelä
When searching for genetic markers inherited together with musical aptitude, genes affecting inner ear development and brain function were identified. The alpha-synuclein gene (SNCA), located in the most significant linkage region of musical aptitude, was overexpressed when listening and performing music. The GATA-binding protein 2 gene (GATA2) was located in the best associated region of musical aptitude and regulates SNCA in dopaminergic neurons, thus linking DNA- and RNA-based studies of music-related traits together...
March 23, 2018: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29568001/dysosteosclerosis-is-also-caused-by-tnfrsf11a-mutation
#20
Long Guo, Nursel H Elcioglu, Ozge K Karalar, Mert O Topkar, Zheng Wang, Yuma Sakamoto, Naomichi Matsumoto, Noriko Miyake, Gen Nishimura, Shiro Ikegawa
Dysosteosclerosis (DOS) is a form of sclerosing bone disease characterized by irregular osteosclerosis and platyspondyly. Its mode of inheritance is autosomal recessive. SLC29A3 mutations have been reported as the causal gene in two DOS families, however, genetic heterogeneity has been suggested. By whole-exome sequencing in a Turkish patient with DOS, we found a novel splice-site mutation in TNFRSF11A. TNFRSF11A mutations have previously been reported in two autosomal dominant diseases (osteolysis, familial expansile and Paget disease of bone 2, early-onset) and an autosomal recessive disease (osteopetrosis, autosomal recessive 7)...
March 22, 2018: Journal of Human Genetics
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