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https://www.readbyqxmd.com/read/27923195/aplastic-anemia-and-mds-international-foundation-aamdsif-bone-marrow-failure-disease-scientific-symposium-2016
#1
Amer M Zeidan, Minoo Battiwalla, Deborah Berlyne, Thomas Winkler
Patients with acquired and inherited bone marrow failure syndromes (BMFS) have ineffective hematopoiesis due to impairments of the hematopoietic stem cell compartment. Common manifestations of BMFS include varying degrees of peripheral blood cytopenias and, sometimes, progression to acute myelogenous leukemia. Research efforts have been made all over the world to improve understanding of the pathogenesis of these diseases and their clinical implications. The Aplastic Anemia and MDS International Foundation (AAMDSIF) is an independent nonprofit organization whose mission is to help patients and family members cope with BMFS...
November 24, 2016: Leukemia Research
https://www.readbyqxmd.com/read/27923120/long-oskar-controls-mitochondrial-inheritance-in-drosophila-melanogaster
#2
Thomas Ryan Hurd, Beate Herrmann, Julia Sauerwald, Justina Sanny, Markus Grosch, Ruth Lehmann
Inherited mtDNA mutations cause severe human disease. In most species, mitochondria are inherited maternally through mechanisms that are poorly understood. Genes that specifically control the inheritance of mitochondria in the germline are unknown. Here, we show that the long isoform of the protein Oskar regulates the maternal inheritance of mitochondria in Drosophila melanogaster. We show that, during oogenesis, mitochondria accumulate at the oocyte posterior, concurrent with the bulk streaming and churning of the oocyte cytoplasm...
December 5, 2016: Developmental Cell
https://www.readbyqxmd.com/read/27922637/a-human-carboxypeptidase-e-nf-%C3%AE-1-gene-mutation-in-an-alzheimer-s-disease-patient-leads-to-dementia-and-depression-in-mice
#3
Y Cheng, N X Cawley, T Yanik, S R K Murthy, C Liu, F Kasikci, D Abebe, Y P Loh
Patients with Alzheimer's disease (AD), a common dementia among the aging population, often also suffer from depression. This comorbidity is poorly understood. Although most forms of AD are not genetically inherited, we have identified a new human mutation in the carboxypeptidase E (CPE)/neurotrophic factor-α1 (NF-α1) gene from an AD patient that caused memory deficit and depressive-like behavior in transgenic mice. This mutation consists of three adenosine inserts, introducing nine amino acids, including two glutamines into the mutant protein, herein called CPE-QQ...
December 6, 2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27922631/dataset-of-eye-disease-related-proteins-analyzed-using-the-unfolding-mutation-screen
#4
Caitlyn L McCafferty, Yuri V Sergeev
A number of genetic diseases are a result of missense mutations in protein structure. These mutations can lead to severe protein destabilization and misfolding. The unfolding mutation screen (UMS) is a computational method that calculates unfolding propensities for every possible missense mutation in a protein structure. The UMS validation demonstrated a good agreement with experimental and phenotypical data. 15 protein structures (a combination of homology models and crystal structures) were analyzed using UMS...
December 6, 2016: Scientific Data
https://www.readbyqxmd.com/read/27922500/facioscapulohumeral-muscular-dystrophy
#5
Jeffrey M Statland, Rabi Tawil
PURPOSE OF REVIEW: This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD). RECENT FINDINGS: FSHD comprises two genetically distinct types that converge on a common downstream pathway of the expression of the toxic protein DUX4. Approximately 95% of patients have FSHD type 1 (FSHD1), in which loss of DNA repetitive elements (D4Z4 repeats) in the subtelomeric region of chromosome 4q causes decreased methylation and epigenetic derepression of DUX4, a gene contained within each D4Z4 repeat...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922338/pathophysiology-of-aortic-aneurysm-insights-from-human-genetics-and-mouse-models
#6
Nicole K Wilson, Russell A Gould, Elena Gallo MacFarlane, Mibava Leducq Consortium
Aneurysms are local dilations of an artery that predispose the vessel to sudden rupture. They are often asymptomatic and undiagnosed, resulting in a high mortality rate. The predisposition to develop thoracic aortic aneurysms is often genetically inherited and associated with syndromes affecting connective tissue homeostasis. This review discusses how elucidation of the genetic causes of syndromic forms of thoracic aortic aneurysm has helped identify pathways that contribute to disease progression, including those activated by TGF-β, angiotensin II and Notch ligands...
December 6, 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27922122/identification-of-critical-paralog-groups-with-indispensable-roles-in-the-regulation-of-signaling-flow
#7
Dezso Modos, Johanne Brooks, David Fazekas, Eszter Ari, Tibor Vellai, Peter Csermely, Tamas Korcsmaros, Katalin Lenti
Extensive cross-talk between signaling pathways is required to integrate the myriad of extracellular signal combinations at the cellular level. Gene duplication events may lead to the emergence of novel functions, leaving groups of similar genes - termed paralogs - in the genome. To distinguish critical paralog groups (CPGs) from other paralogs in human signaling networks, we developed a signaling network-based method using cross-talk annotation and tissue-specific signaling flow analysis. 75 CPGs were found with higher degree, betweenness centrality, closeness, and 'bowtieness' when compared to other paralogs or other proteins in the signaling network...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27920870/pyle-disease-metaphyseal-dysplasia-presenting-in-two-adult-sisters
#8
Diego Ximenes Soares, Amália Mapurunga Almeida, André Rodrigues Façanha Barreto, Ilze Jucá Alencar E Silva, José Daniel Vieira de Castro, Francisco José Magalhães Pinto, Daniel Aguiar Dias, Lindenberg Barbosa Aguiar
Pyle's disease is an extremely rare skeletal disorder characterized by a benign course and an autosomal recessive genetic pattern of inheritance. Its causal mutation is still unknown. In the medical literature, fewer than 30 cases have been described to date. We report the case of two female siblings, daughters of consanguineous parents, referred to the radiology department complaining of genu valgum. Laboratory tests showed no other relevant findings. Conventional radiography plain films revealed Erlenmeyer flask deformity in bilateral femorotibial metaphyses, metaphyseal flaring of long bones, and mild sclerosis of the skull base...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27920806/hereditary-multiple-exostoses-a-review-of-clinical-appearance-and-metabolic-pattern
#9
REVIEW
Giovanni Beltrami, Gabriele Ristori, Guido Scoccianti, Angela Tamburini, Rodolfo Capanna
Hereditary multiple exostoses (HME) is an inherited genetic condition characterized by the presence of multiple exostoses (osteochondromas). MHE is a relatively rare autosomal dominant disorder, mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). These genes are linked to heparan sulfate (HS) synthesis, but the specific molecular mechanism leading to the disruption of the cartilage structure and the consequent exostoses formation is still not resolved. The aim of this paper is to encounter the main aspects of HME reviewing the literature, in order to improve clinical features and evolution, and the metabolic-pathogenetic mechanisms underlying...
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27920422/population-based-screening-for-selective-immunoglobulin-a-iga-deficiency-in-lithuanian-children-using-a-rapid-antibody-based-fingertip-test
#10
Vaidotas Urbonas, Jolita Sadauskaite, Rimante Cerkauskiene, Arvydas Kaminskas, Markku Mäki, Kalle Kurppa
BACKGROUND Selective immunoglobulin A (IgA) deficiency is the most common inherited immunodeficiency disorder worldwide. An early diagnosis is advocated because of the increased risk of infections, autoimmune diseases, and allergic reactions. We investigated the usefulness of a rapid point-of-care test in detecting for IgA deficiency in a population with a previously unknown prevalence. MATERIAL AND METHODS Altogether, 1000 children aged 11-13 years from randomly selected Lithuanian schools were enrolled. A point-of-care test with a fingertip sample was used to screen for the presence of IgA deficiency in children whose parents gave consent...
December 6, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27920410/a-novel-splice-site-mutation-in-the-aspm-gene-underlies-autosomal-recessive-primary-microcephaly
#11
Jamil A Hashmi, Khalid M Al-Harbi, Khushnooda Ramzan, Alia M Albalawi, Amir Mehmood, Mohammed I Samman, Sulman Basit
BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disorder. Patients with MCPH exhibit reduced occipito-frontal head circumference and non-progressive intellectual disability. To date, 17 genes have been known as an underlying cause of MCPH in humans. ASPM (abnormal spindle-like, microcephaly associated) is the most commonly mutated MCPH gene. OBJECTIVE: Identify the genetic defect underlying MCPH in a Saudi family...
November 2016: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/27920237/von-willebrand-disease-a-concise-review-and-update-for-the-practicing-physician
#12
Arjun Swami, Varinder Kaur
von Willebrand disease (vWD) is the most common inherited disorder of hemostasis and comprises a spectrum of heterogeneous subtypes. Significant advances have been made in understanding von Willebrand factor (vWF) gene mutations, resultant physiologic deficits in the vWF peptide, and their correlation to clinical presentation. Diagnostic tests for this disorder are complex, and interpretation requires a thorough understanding of the underlying pathophysiology by the practicing physician. The objective of this review is to summarize our current understanding of pathophysiology, laboratory investigations, and evolving treatment paradigm of vWD with the availability of recombinant von Willebrand factor...
December 5, 2016: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/27919711/epigenetic-dysfunctional-diseases-and-therapy-for-infection-and-inflammation
#13
REVIEW
Saheli Samanta, Sheeja Rajasingh, Thuy Cao, Buddhadeb Dawn, Johnson Rajasingh
Even though the discovery of the term 'epigenetics' was in the 1940s, it has recently become one of the most promising and expanding fields to unravel the gene expression pattern in several diseases. The most well studied example is cancer, but other diseases like metabolic disorders, autism, or inflammation-associated diseases such as lung injury, autoimmune disease, asthma, and type-2 diabetes display aberrant gene expression and epigenetic regulation during their occurrence. The change in the epigenetic pattern of a gene may also alter gene function because of a change in the DNA status...
December 2, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27919548/cognitive-decline-over-time-in-adults-with-myotonic-dystrophy-type-1-a-9-year-longitudinal-study
#14
Benjamin Gallais, Cynthia Gagnon, Jean Mathieu, Louis Richer
Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disease with multisystemic involvement including the central nervous system. The evolution of the cognitive profile is a matter of debate, whether an eventual decline could be global or process-specific. Study aims are to describe, compare and document the clinical relevance of the progression of cognitive abilities in DM1 patients with adult and late-onset phenotypes. A total of 115 DM1 patients (90 adult; 25 late-onset) were assessed twice within a 9-year period on cognitive abilities (language, memory, visual attention, processing speed, visuoconstructive abilities and executive functions) and intellectual functioning (WAIS-R 7)...
October 14, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27919364/double-heterozygous-autosomal-dominant-hypercholesterolemia-clinical-characterization-of-an-underreported-disease
#15
Barbara Sjouke, Joep C Defesche, Merel L Hartgers, Albert Wiegman, Jeanine E Roeters van Lennep, John J Kastelein, G Kees Hovingh
INTRODUCTION: Autosomal dominant hypercholesterolemia (ADH), characterized by high-plasma low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease (CVD) risk, is caused by mutations in LDLR, APOB, and/or PCSK9. OBJECTIVE: To describe the clinical characteristics of "double-heterozygous carriers," with 2 mutations in 2 different ADH causing genes, that is, LDLR and APOB or LDLR and PCSK9. METHODS: Double heterozygotes were identified in the database of the national referral laboratory for DNA diagnostics of inherited dyslipidemias...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27919349/familial-combined-hyperlipidemia-and-hyperlipoprotein-a-as-phenotypic-mimics-of-familial-hypercholesterolemia-frequencies-associations-and-predictions
#16
Katrina L Ellis, Jing Pang, Dick C Chan, Amanda J Hooper, Damon A Bell, John R Burnett, Gerald F Watts
BACKGROUND: A significant proportion of index cases presenting with phenotypic familial hypercholesterolemia (FH) are not found to have a pathogenic mutation and may have other inherited conditions. OBJECTIVES: Familial combined hyperlipidemia (FCHL) and elevated lipoprotein(a) [Lp(a)] may mimic FH, but the frequency and correlates of these disorders among mutation-negative FH patients have yet to be established. METHODS: The frequency of FCHL and elevated Lp(a) was investigated in 206 FH mutation-negative index cases attending a specialist lipid clinic...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27919073/mitochondrial-replacement-in-human-oocytes-carrying-pathogenic-mitochondrial-dna-mutations
#17
Eunju Kang, Jun Wu, Nuria Marti Gutierrez, Amy Koski, Rebecca Tippner-Hedges, Karen Agaronyan, Aida Platero-Luengo, Paloma Martinez-Redondo, Hong Ma, Yeonmi Lee, Tomonari Hayama, Crystal Van Dyken, Xinjian Wang, Shiyu Luo, Riffat Ahmed, Ying Li, Dongmei Ji, Refik Kayali, Cengiz Cinnioglu, Susan Olson, Jeffrey Jensen, David Battaglia, David Lee, Diana Wu, Taosheng Huang, Don P Wolf, Dmitry Temiakov, Juan Carlos Izpisua Belmonte, Paula Amato, Shoukhrat Mitalipov
Maternally inherited mitochondrial (mt)DNA mutations can cause fatal or severely debilitating syndromes in children, with disease severity dependent on the specific gene mutation and the ratio of mutant to wild-type mtDNA (heteroplasmy) in each cell and tissue. Pathogenic mtDNA mutations are relatively common, with an estimated 778 affected children born each year in the United States. Mitochondrial replacement therapies or techniques (MRT) circumventing mother-to-child mtDNA disease transmission involve replacement of oocyte maternal mtDNA...
November 30, 2016: Nature
https://www.readbyqxmd.com/read/27918975/epigenetic-control-of-%C3%AE-cell-function-and-failure
#18
REVIEW
Diana Bernstein, Maria L Golson, Klaus H Kaestner
Type 2 diabetes is a highly heritable disease, but only ∼15% of this heritability can be explained by known genetic variant loci. In fact, body mass index is more predictive of diabetes than any of the common risk alleles identified by genome-wide association studies. This discrepancy may be explained by epigenetic inheritance, whereby changes in gene regulation can be passed along to offspring. Epigenetic changes throughout an organism's lifetime, based on environmental factors such as chemical exposures, diet, physical activity, and age, can also affect gene expression and susceptibility to diabetes...
November 21, 2016: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/27917694/outcomes-of-kidney-transplantation-in-alport-syndrome-compared-with-other-forms-of-renal-disease
#19
Yvelynne P Kelly, Anish Patil, Luke Wallis, Susan Murray, Saumitra Kant, Mohammed A Kaballo, Liam Casserly, Brendan Doyle, Anthony Dorman, Patrick O'Kelly, Peter J Conlon
INTRODUCTION: Alport syndrome is an inherited renal disease characterized by hematuria, renal failure, hearing loss and a lamellated glomerular basement membrane. Patients with Alport syndrome who undergo renal transplantation have been shown to have patient and graft survival rates similar to or better than those of patients with other renal diseases. METHODS: In this national case series, based in Beaumont Hospital Dublin, we studied the cohort of patients who underwent renal transplantation over the past 33 years, recorded prospectively in the Irish Renal Transplant Registry, and categorized them according to the presence or absence of Alport syndrome...
December 5, 2016: Renal Failure
https://www.readbyqxmd.com/read/27916777/modeling-inherited-arrhythmia-disorders-using-induced-pluripotent-stem-cell-derived-cardiomyocytes
#20
Vassilios J Bezzerides, Donghui Zhang, William T Pu
Inherited arrhythmia disorders (IADs) are a group of potentially lethal diseases that remain diagnostic and management challenges. Although the genetic basis for many of these disorders is well known, the pathogenicity of individual mutations and the resulting clinical outcomes are difficult to predict. Treatment options remain imperfect, and optimizing therapy for individual patients can be difficult. Recent advances in the derivation of induced pluripotent stem cells (iPSCs) from patients and creation of genetically engineered human models using CRISPR/Cas9 has the potential to dramatically advance translational arrhythmia research...
December 3, 2016: Circulation Journal: Official Journal of the Japanese Circulation Society
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