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Heritable disorders

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https://www.readbyqxmd.com/read/28230519/classification-diagnosis-and-pathogenesis-of-rare-heritable-connective-tissue-disorders-the-impact-of-differential-ultrastructural-aberrations-of-dermal-connective-tissue-components
#1
https://www.readbyqxmd.com/read/28230325/serum-phosphatidylinositol-as-a-biomarker-for-bipolar-disorder-liability
#2
Emma Em Knowles, Peter J Meikle, Kevin Huynh, Harald Hh Göring, Rene L Olvera, Samuel R Mathias, Ravi Duggirala, Laura Almasy, John Blangero, Joanne E Curran, David C Glahn
OBJECTIVES: Individuals with bipolar disorder (BPD) exhibit alterations in their phospholipid levels. It is unclear whether these alterations are a secondary consequence of illness state, or if phospholipids and illness risk overlap genetically. If the latter were true, then phospholipids might provide key insights into the pathophysiology of the illness. Therefore, we rank-ordered phospholipid classes by their genetic overlap with BPD risk in order to establish which class might be most informative in terms of increasing our understanding of illness pathophysiology...
February 23, 2017: Bipolar Disorders
https://www.readbyqxmd.com/read/28224735/genetic-risk-variants-for-social-anxiety
#3
Murray B Stein, Chia-Yen Chen, Sonia Jain, Kevin P Jensen, Feng He, Steven G Heeringa, Ronald C Kessler, Adam Maihofer, Matthew K Nock, Stephan Ripke, Xiaoying Sun, Michael L Thomas, Robert J Ursano, Jordan W Smoller, Joel Gelernter
Social anxiety is a neurobehavioral trait characterized by fear and reticence in social situations. Twin studies have shown that social anxiety has a heritable basis, shared with neuroticism and extraversion, but genetic studies have yet to demonstrate robust risk variants. We conducted genomewide association analysis (GWAS) of subjects within the Army Study To Assess Risk and Resilience in Servicemembers (Army STARRS) to (i) determine SNP-based heritability of social anxiety; (ii) discern genetic risk loci for social anxiety; and (iii) determine shared genetic risk with neuroticism and extraversion...
March 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28224734/anxiety-genetics-dispatches-from-the-frontier
#4
Jordan W Smoller
Anxiety disorders are the most common class of psychiatric disorders and incur an enormous burden in terms of economic costs, disability and personal suffering. Despite their public health importance and documented heritability, genetic research aimed at identifying the genetic contributions to these disorders has had limited success, particularly in comparison to recent advances in the genetics of other major psychiatric disorders. The major factor contributing to this lagging progress has been a dearth of well-powered genomic studies...
March 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28224622/slc2a3-single-nucleotide-polymorphism-and-duplication-influence-cognitive-processing-and-population-specific-risk-for-attention-deficit-hyperactivity-disorder
#5
Sören Merker, Andreas Reif, Georg C Ziegler, Heike Weber, Ute Mayer, Ann-Christine Ehlis, Annette Conzelmann, Stefan Johansson, Clemens Müller-Reible, Indrajit Nanda, Thomas Haaf, Reinhard Ullmann, Marcel Romanos, Andreas J Fallgatter, Paul Pauli, Tatyana Strekalova, Charline Jansch, Alejandro Arias Vasquez, Jan Haavik, Marta Ribasés, Josep Antoni Ramos-Quiroga, Jan K Buitelaar, Barbara Franke, Klaus-Peter Lesch
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental disorder with profound cognitive, behavioral, and psychosocial impairments with persistence across the life cycle. Our initial genome-wide screening approach for copy number variants (CNVs) in ADHD implicated a duplication of SLC2A3, encoding glucose transporter-3 (GLUT3). GLUT3 plays a critical role in cerebral glucose metabolism, providing energy for the activity of neurons, which, in turn, moderates the excitatory-inhibitory balance impacting both brain development and activity-dependent neural plasticity...
February 22, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28220926/genetic-testing-for-autism-spectrum-disorder-is-lacking-evidence-of-cost-effectiveness-a-systematic-review
#6
Andreas Ziegler, Wolfgang Rudolph-Rothfeld, Reinhard Vonthein
BACKGROUND: Autism Spectrum Disorder (ASD) is a highly heritable neural development disorder characterized by social impairment. The earlier the diagnosis is made, the higher are the chances of obtaining relief of symptoms. A very early diagnosis uses molecular genetic tests, which are also offered commercially. OBJECTIVE: Systematic review of the economic impact of genetic tests in ASD. METHODS: We performed a systematic search of databases Pubmed, Medline, Cochrane, Econlit and the NHS Center for Reviews and Dissemination for articles in English and German from January 1, 2000 to December 31, 2015...
February 21, 2017: Methods of Information in Medicine
https://www.readbyqxmd.com/read/28220607/neurological-and-spinal-manifestations-of-the-ehlers-danlos-syndromes
#7
Fraser C Henderson, Claudiu Austin, Edward Benzel, Paolo Bolognese, Richard Ellenbogen, Clair A Francomano, Candace Ireton, Petra Klinge, Myles Koby, Donlin Long, Sunil Patel, Eric L Singman, Nicol C Voermans
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility, and tissue fragility. This communication briefly reports upon the neurological manifestations that arise including the weakness of the ligaments of the craniocervical junction and spine, early disc degeneration, and the weakness of the epineurium and perineurium surrounding peripheral nerves. Entrapment, deformation, and biophysical deformative stresses exerted upon the nervous system may alter gene expression, neuronal function and phenotypic expression...
February 21, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28212724/mechanistic-insight-into-neurotoxicity-induced-by-developmental-insults
#8
REVIEW
Christoffer Tamm, Sandra Ceccatelli
Epidemiological and/or experimental studies have shown that unfavorable prenatal environmental factors, such as stress or exposure to certain neurotoxic environmental contaminants, may have adverse consequences for neurodevelopment. Alterations in neurogenesis can have harmful effects not only for the developing nervous system, but also for the adult brain where neurogenesis is believed to play a role in learning, memory, and even in depression. Many recent advances in the understanding of the complex process of nervous system development can be integrated into the field of neurotoxicology...
January 15, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28207320/cardiac-findings-in-quarter-horses-with-heritable-equine-regional-dermal-asthenia
#9
Erin L Brinkman, Benjamin C Weed, Sourav S Patnaik, Bryn L Brazile, Ryan M Centini, Robert W Wills, Bari Olivier, Dodd G Sledge, Jim Cooley, Jun Liao, Ann M Rashmir-Raven
OBJECTIVE To compare biomechanical and histologic features of heart valves and echocardiographic findings between Quarter Horses with and without heritable equine regional dermal asthenia (HERDA). DESIGN Prospective case-control study. ANIMALS 41 Quarter Horses. PROCEDURES Ultimate tensile strength (UTS) of aortic and mitral valve leaflets was assessed by biomechanical testing in 5 horses with HERDA and 5 horses without HERDA (controls). Histologic evaluation of aortic and mitral valves was performed for 6 HERDA-affected and 3 control horses...
March 1, 2017: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/28203325/inherited-thrombocytopenia-with-a-different-type-of-gene-mutation-a-brief-literature-review-and-two-case-studies
#10
Mohammad Taghi Arzanian
Hereditary thrombocytopenias are rare bleeding disorders, which cause a deficiency of platelets in early infancy. This group of disorders is sometimes associated with abnormal phenotypes, like absence of radius. Diagnosis of this type of thrombocytopenia is usually difficult; other causes of thrombocytopenia, such as immune disorders and infections, must be ruled out. The symptoms of hereditary thrombocytopenia also vary from seldom and mild to severe bleeding and occasionally may first occur in late childhood...
October 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/28201990/a-vast-genomic-deletion-in-the-c56bl-6-genome-affects-different-genes-within-the-ifi200-cluster-on-chromosome-1-and-mediates-obesity-and-insulin-resistance
#11
Heike Vogel, Markus Jähnert, Mandy Stadion, Daniela Matzke, Stephan Scherneck, Annette Schürmann
BACKGROUND: Obesity, the excessive accumulation of body fat, is a highly heritable and genetically heterogeneous disorder. The complex, polygenic basis for the disease consisting of a network of different gene variants is still not completely known. RESULTS: In the current study we generated a BAC library of the obese-prone NZO strain to clarify the genomic alteration within the gene cluster Ifi200 on chr.1 including Ifi202b, an obesity gene that is in contrast to NZO not expressed in the lean B6 mouse...
February 15, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28195573/whole-exome-sequencing-of-individuals-from-an-isolated-population-implicates-rare-risk-variants-in-bipolar-disorder
#12
F Lescai, T D Als, Q Li, M Nyegaard, G Andorsdottir, M Biskopstø, A Hedemand, A Fiorentino, N O'Brien, A Jarram, J Liang, J Grove, J Pallesen, E Eickhardt, M Mattheisen, L Bolund, D Demontis, A G Wang, A McQuillin, O Mors, J Wang, A D Børglum
Bipolar disorder affects about 1% of the world's population, and its estimated heritability is about 75%. Only few whole genome or whole-exome sequencing studies in bipolar disorder have been reported, and no rare coding variants have yet been robustly identified. The use of isolated populations might help finding variants with a recent origin, more likely to have drifted to higher frequency by chance. Following this approach, we investigated 28 bipolar cases and 214 controls from the Faroe Islands by whole exome sequencing, and the results were followed-up in a British sample of 2025 cases and 1358 controls...
February 14, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28194004/genetic-contributions-to-self-reported-tiredness
#13
V Deary, S P Hagenaars, S E Harris, W D Hill, G Davies, D C M Liewald, A M McIntosh, C R Gale, I J Deary
Self-reported tiredness and low energy, often called fatigue, are associated with poorer physical and mental health. Twin studies have indicated that this has a heritability between 6 and 50%. In the UK Biobank sample (N=108 976), we carried out a genome-wide association study (GWAS) of responses to the question, 'Over the last two weeks, how often have you felt tired or had little energy?' Univariate GCTA-GREML found that the proportion of variance explained by all common single-nucleotide polymorphisms for this tiredness question was 8...
February 14, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28192633/ehlers-danlos-syndrome-classical-type
#14
Jessica M Bowen, Glenda J Sobey, Nigel P Burrows, Marina Colombi, Mark E Lavallee, Fransiska Malfait, Clair A Francomano
Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. The most recent criteria for the diagnosis of EDS were devised in Villefranche in 1997. [Beighton et al. (1998); Am J Med Genet 77:31-37]. The aims set out in the Villefranche Criteria were: to enable diagnostic uniformity for clinical and research purposes, to understand the natural history of each subtype of EDS, to inform management and genetic counselling, and to identify potential areas of research...
February 13, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28188958/potassium-channel-gene-associations-with-joint-processing-speed-and-white-matter-impairments-in-schizophrenia
#15
Heather A Bruce, Peter Kochunov, Sara A Paciga, Craig L Hyde, Xing Chen, Zhiyong Xie, Baohong Zhang, Hualin S Xi, Patricio O'Donnell, Christopher Whelan, Christian R Schubert, Alfredo Bellon, Seth A Ament, Dinesh K Shukla, Xiaoming Du, Laura M Rowland, Hugh O'Neill, L Elliot Hong
Patients with schizophrenia show decreased processing speed on neuropsychological testing and decreased white matter integrity as measured by diffusion tensor imaging, two traits shown to be both heritable and genetically associated indicating that there may be genes that influence both traits as well as schizophrenia disease risk. The potassium channel gene family is a reasonable candidate to harbor such a gene given the prominent role potassium channels play in the central nervous system in signal transduction, particularly in myelinated axons...
February 11, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28186356/bone-robusticity-in-two-distinct-skeletal-dysplasias-diverges-from-established-patterns
#16
Kate Citron, Cosmo Veneziale, Josephine Marino, Erin M Carter, Karl J Jepsen, Cathleen Raggio
Achondroplasia is a heritable disorder of endochondral bone formation characterized by disproportionate short stature. Osteogenesis imperfecta is a heritable bone and connective tissue disorder characterized by bone fragility. To investigate bone morphology of these groups, we retrospectively reviewed 169 de-identified bone age films from 20 individuals with achondroplasia, 39 individuals with osteogenesis imperfecta and 37 age- and sex-matched controls (matched to historical measurements from the Bolton-Brush Collection)...
February 10, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28186152/association-of-polygenic-risk-for-major-psychiatric-illness-with-subcortical-volumes-and-white-matter-integrity-in-uk-biobank
#17
L M Reus, X Shen, J Gibson, E Wigmore, L Ligthart, M J Adams, G Davies, S R Cox, S P Hagenaars, M E Bastin, I J Deary, H C Whalley, A M McIntosh
Major depressive disorder (MDD), schizophrenia (SCZ) and bipolar disorder (BP) are common, disabling and heritable psychiatric diseases with a complex overlapping polygenic architecture. Individuals with these disorders, as well as their unaffected relatives, show widespread structural differences in corticostriatal and limbic networks. Structural variation in many of these brain regions is also heritable and polygenic but whether their genetic architecture overlaps with that of major psychiatric disorders is unknown...
February 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28178086/identification-of-rare-nonsynonymous-variants-in-syne1-cpg2-in-bipolar-affective-disorder
#18
Sally I Sharp, Jenny Lange, Radhika Kandaswamy, Mazen Daher, Adebayo Anjorin, Nicholas J Bass, Andrew McQuillin
BACKGROUND: Bipolar affective disorder (BPD) is a severe mood disorder with a prevalence of ∼1.5% in the population. The pathogenesis of BPD is poorly understood; however, a strong heritable component has been identified. Previous genome-wide association studies have indicated a region on 6q25, coding for the SYNE1 gene, which increases disease susceptibility. SYNE1 encodes the synaptic nuclear envelope protein-1, nesprin-1. A brain-specific splice variant of SYNE1, CPG2 encoding candidate plasticity gene 2, has been identified...
February 7, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28176975/familial-aggregation-of-the-cerebellar-signs-in-familial-essential-tremor
#19
Elan D Louis, Nora Hernandez, Karen P Chen, Kelly V Naranjo, Jemin Park, Lorraine N Clark, Ruth Ottman
BACKGROUND: Although the hallmark feature of essential tremor (ET) is kinetic tremor, patients may exhibit additional motor features (e.g., intention tremor and mild gait ataxia) that are markers of an underlying abnormality of cerebellar function. ET is also a highly familial disorder, but we do not know whether the presence and expression of cerebellar signs are similar across family members. There are simply no published data. The alternative possibility is that these features are not heritable...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28169007/identification-of-the-first-in-poland-cacna1a-gene-mutation-in-familial-hemiplegic-migraine-case-report
#20
Biruta Kierdaszuk, Dorota Dziewulska, Ewa Pronicka, Joanna Trubicka, Dariusz Rokicki, Dorota Piekutowska-Abramczuk, Magdalena Kaliszewska, Katarzyna Tonska, Ewa Bartnik, Rafal Ploski, Anna M Kaminska
INTRODUCTION: Migraine is a common neurological disorder characterized by a particular phenotype, complex pathophysiology and a heterogeneous genetic background. Among several heritable forms, familial hemiplegic migraine is the best described one. In the majority of cases it is caused by mutations in one of three different genes. CASE REPORT: Clinical symptoms of a 47 year old proband (and independently described in his 20 year old son) as well as differential diagnosis are discussed in the presented report...
January 21, 2017: Neurologia i Neurochirurgia Polska
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