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Hereditary Disease

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https://www.readbyqxmd.com/read/29049388/an-inducible-mouse-model-of-podocin-mutation-related-nephrotic-syndrome
#1
Mansoureh Tabatabaeifar, Tanja Wlodkowski, Ivana Simic, Helga Denc, Geraldine Mollet, Stefanie Weber, John Julius Moyers, Barbara Brühl, Michael Joseph Randles, Rachel Lennon, Corinne Antignac, Franz Schaefer
Mutations in the NPHS2 gene, encoding podocin, cause hereditary nephrotic syndrome. The most common podocin mutation, R138Q, is associated with early disease onset and rapid progression to end-stage renal disease. Knock-in mice carrying a R140Q mutation, the mouse analogue of human R138Q, show developmental arrest of podocytes and lethal renal failure at neonatal age. Here we created a conditional podocin knock-in model named NPHS2 R140Q/-, using a tamoxifen-inducible Cre recombinase, which permits to study the effects of the mutation in postnatal life...
2017: PloS One
https://www.readbyqxmd.com/read/29048471/a-new-staging-system-for-cardiac-transthyretin-amyloidosis
#2
Julian D Gillmore, Thibaud Damy, Marianna Fontana, Matthew Hutchinson, Helen J Lachmann, Ana Martinez-Naharro, Candida C Quarta, Tamer Rezk, Carol J Whelan, Esther Gonzalez-Lopez, Thirusha Lane, Janet A Gilbertson, Dorota Rowczenio, Aviva Petrie, Philip N Hawkins
Aims: Cardiac transthyretin (ATTR) amyloidosis is an increasingly recognized, progressive, and fatal cardiomyopathy, the natural history of which remains unclear. We sought to establish and validate a new prognostic staging system applicable to patients with both wild-type ATTR (ATTRwt) and hereditary variant ATTR (ATTRv) amyloid cardiomyopathy. Methods and results: Eight hundred and sixty-nine patients with cardiac ATTR amyloidosis (553 with ATTRwt and 316 with ATTRv) attending the UK National Amyloidosis Centre were stratified into three disease stages at baseline on the basis of cut points in two universally measured biomarkers, N-terminal pro-B-type natriuretic peptide (NT-proBNP) and estimated glomerular filtration rate (eGFR)...
October 18, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29048427/hdac6-inhibition-by-tubastatin-a-is-protective-against-oxidative-stress-in-a-photoreceptor-cell-line-and-restores-visual-function-in-a-zebrafish-model-of-inherited-blindness
#3
Janina Leyk, Conor Daly, Ulrike Janssen-Bienhold, Breandán N Kennedy, Christiane Richter-Landsberg
Retinal diseases, such as hereditary retinitis pigmentosa and age-related macular degeneration, are characterized by the progressive loss of photoreceptors. Histone deacetylase 6 (HDAC6) is considered as a stress surveillance factor and a potential target for neuroprotection and regeneration. Overexpression of HDAC6 has been connected to neurodegenerative disorders, and its suppression may provide protection. Here we show that HDAC6 is constitutively present in the mouse retina, and in the cone-like mouse cell line 661W...
August 31, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/29048420/characterization-of-pulmonary-arteriovenous-malformations-in-acvrl1-versus-eng-mutation-carriers-in-hereditary-hemorrhagic-telangiectasia
#4
Weiyi Mu, Zachary A Cordner, Kevin Yuqi Wang, Kate Reed, Gina Robinson, Sally Mitchell, Doris Lin
PurposePulmonary arteriovenous malformations (pAVMs) are major contributors to morbidity and mortality in hereditary hemorrhagic telangiectasia (HHT). Mutations in ENG and ACVRL1 underlie the vast majority of clinically diagnosed cases. The aims of this study were to characterize and compare the clinical and morphologic features of pAVMs between these two genotype groups.MethodsSixty-six patients with HHT and affected family members were included. Genotype, phenotypic data, and imaging were obtained from medical records...
October 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29047407/a-web-based-collection-of-genotype-phenotype-associations-in-hereditary-recurrent-fevers-from-the-eurofever-registry
#5
Riccardo Papa, Matteo Doglio, Helen J Lachmann, Seza Ozen, Joost Frenkel, Anna Simon, Bénédicte Neven, Jasmin Kuemmerle-Deschner, Huri Ozgodan, Roberta Caorsi, Silvia Federici, Martina Finetti, Maria Trachana, Jurgen Brunner, Liliana Bezrodnik, Mari Carmen Pinedo Gago, Maria Cristina Maggio, Elena Tsitsami, Wafaa Al Suwairi, Graciela Espada, Anna Shcherbina, Guzide Aksu, Nicolino Ruperto, Alberto Martini, Isabella Ceccherini, Marco Gattorno
BACKGROUND: Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database ( http://fmf.igh.cnrs.fr/ISSAID/infevers ) is a large international registry collecting variants reported in these genes. However, no genotype-phenotype associations are provided, but only the clinical phenotype of the first patient(s) described for each mutation...
October 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29046784/the-role-of-gene-variants-in-the-pathogenesis-of-neurodegenerative-disorders-as-revealed-by-next-generation-sequencing-studies-a-review
#6
REVIEW
Shirley Yin-Yu Pang, Kay-Cheong Teo, Jacob Shujui Hsu, Richard Shek-Kwan Chang, Miaoxin Li, Pak-Chung Sham, Shu-Leong Ho
The clinical diagnosis of neurodegenerative disorders based on phenotype is difficult in heterogeneous conditions with overlapping symptoms. It does not take into account the disease etiology or the highly variable clinical course even amongst patients diagnosed with the same disorder. The advent of next generation sequencing (NGS) has allowed for a system-wide, unbiased approach to identify all gene variants in the genome simultaneously. With the plethora of new genes being identified, genetic rather than phenotype-based classification of Mendelian diseases such as spinocerebellar ataxia (SCA), hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth disease (CMT) has become widely accepted...
2017: Translational Neurodegeneration
https://www.readbyqxmd.com/read/29046555/mother-s-curse-neutralizes-natural-selection-against-a-human-genetic-disease-over-three-centuries
#7
Emmanuel Milot, Claudia Moreau, Alain Gagnon, Alan A Cohen, Bernard Brais, Damian Labuda
According to evolutionary theory, mitochondria could be poisoned gifts that mothers transmit to their sons. This is because mutations harmful to males are expected to accumulate in the mitochondrial genome, the so-called 'mother's curse'. However, the contribution of the mother's curse to the mutation load in nature remains largely unknown and hard to predict, because compensatory mechanisms could impede the spread of deleterious mitochondria. Here we provide evidence for the mother's curse in action over 290 years in a human population...
September 2017: Nature ecology & evolution
https://www.readbyqxmd.com/read/29046212/-research-advances-in-hereditary-epilepsy-and-precision-drug-therapy
#8
Ge Lyu, Yun-Li Han
Epilepsy is a common nervous system disease. It has been found that the pathogenesis of epilepsy is associated mutations in various genes, including genes encoding voltage-dependent ion channel, genes encoding ligand-gated ion channel, and solute carrier family genes. Different types of epilepsy caused by different mutations have different responses to drugs, and therefore, diagnosis and medication guidance based on genes are new thoughts for developing therapies. With the application of next-generation sequencing technology, more and more genes will be determined, which helps to further study the pathogenic mechanism of mutant genes and provides a basis for precision drug therapy for epilepsy...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29046206/-clinical-and-genetic-analyses-of-a-family-with-atypical-nonketotic-hyperglycinemia-caused-by-compound-heterozygous-mutations-in-the-gldc-gene
#9
Tie-Jia Jiang, Jing-Jing Jiang, Jia-Lu Xu, Jing Zhen, Pei-Fang Jiang, Feng Gao
Nonketotic hyperglycinemia (NKH) is an autosomal recessive hereditary disease caused by a defect in the glycine cleavage system and is classified into typical and atypical NKH. Atypical NKH has complex manifestations and is difficult to diagnose in clinical practice. This article reports a family of NKH. The parents had normal phenotypes, and the older brother and the younger sister developed this disease in the neonatal period. The older brother manifested as intractable epilepsy, severe spastic diplegia, intellectual disability, an increased level of glycine in blood and cerebrospinal fluid, an increased glycine/creatinine ratio in urine, and an increased ratio of glycine concentration in cerebrospinal fluid and blood...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29046193/health-related-quality-of-life-in-danish-children-with-hereditary-angioedema
#10
Anne Aabom, Dan Nguyen, Niels Fisker, Anette Bygum
BACKGROUND: The potentially life-threatening disease hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) can have considerable impact on the health-related quality of life (HRQoL) in adult patients. Half the patients with C1-INH-HAE develop symptoms before the age of 10 years. However, the HRQoL in children with C1-INH-HAE is almost unexplored. OBJECTIVE: To investigate HRQoL in Danish children with C1-INH-HAE, including possible correlations to disease severity and attack frequency...
November 1, 2017: Allergy and Asthma Proceedings:
https://www.readbyqxmd.com/read/29046190/hereditary-angioneurotic-edema-%C3%A2-a-disease-has-been-described
#11
Joseph A Bellanti, Russell A Settipane
No abstract text is available yet for this article.
November 1, 2017: Allergy and Asthma Proceedings:
https://www.readbyqxmd.com/read/29042737/nance-horan-syndrome-a-rare-case-report
#12
Shambhu Sharma, Pankaj Datta, Janak Raj Sabharwal, Sonia Datta
Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance-Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors...
July 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29041837/infective-keratitis-in-indian-patients-with-corneal-dystrophies
#13
Anita Ganger, Noopur Gupta, Ankit S Tomar, Murugesan Vanathi, Radhika Tandon
All eight patients seen with various types of corneal dystrophy, a rare hereditary corneal disease, presented with infective keratitis. Unilateral microbial invasion was seen in all patients and the visual acuity of the affected eyes was <6/60 at presentation. We highlight our impression that microbial invasion can occur with all types of epithelial and stromal corneal dystrophy, including macular corneal dystrophy. Regular follow-up to maintain a healthy ocular surface is recommended to avert blindness in such patients...
January 1, 2017: Tropical Doctor
https://www.readbyqxmd.com/read/29040209/inherited-and-acquired-clinical-phenotypes-associated-with-neuroendocrine-tumors
#14
Rory E Nicholaides, M Teresa de la Morena
PURPOSE OF REVIEW: Overview of neuroendocrine neoplasms in the context of their associations with primary and secondary immunodeficiency states. RECENT FINDINGS: Malignancies of neuroendocrine origin are well known to be associated with hereditary syndromes, including multiple endocrine neoplasia type 1, von Hippel-Lindau syndrome, neurofibromatosis type 1, and tuberous sclerosis. This review includes the X-linked form of hyper-IgM syndrome (XHIGM), due to mutations in the CD40Ligand gene (CD40LG), as an additional inherited disorder with susceptibility to such malignancies, and discusses neuroendocrine tumors (NETs) arising in other immunocompromised states...
October 16, 2017: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29037818/snrnp-proteins-in-health-and-disease
#15
REVIEW
Michaela Krausová, David Staněk
Split gene architecture of most human genes requires removal of intervening sequences by mRNA splicing that occurs on large multiprotein complexes called spliceosomes. Mutations compromising several spliceosomal components have been recorded in degenerative syndromes and haematological neoplasia, thereby highlighting the importance of accurate splicing execution in homeostasis of assorted adult tissues. Moreover, insufficient splicing underlies defective development of craniofacial skeleton and upper extremities...
October 13, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/29037129/enzymes-regulated-via-cystathionine-%C3%AE-synthase-domains
#16
REVIEW
V A Anashkin, A A Baykov, R Lahti
Cystathionine β-synthase (CBS) domains discovered 20 years ago can bind different adenosine derivatives (AMP, ADP, ATP, S-adenosylmethionine, NAD, diadenosine polyphosphates) and thus regulate the activities of numerous proteins. Mutations in CBS domains of enzymes and membrane transporters are associated with several hereditary diseases. The regulatory unit is a quartet of CBS domains that belong to one or two polypeptides and usually form a conserved disk-like structure. CBS domains function as "internal inhibitors" in enzymes, and their bound ligands either amplify or attenuate the inhibitory effect...
October 2017: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/29036958/-a-clinical-and-hereditary-analysis-of-novel-complex-heterozygous-kcnj1-mutation-in-a-bartter-syndrome-type-%C3%A2-patient
#17
X Y Li, Y Jiang, L J Xu, L Duan, X Y Peng, L M Chen, W B Xia, X P Xing
Bartter syndrome (BS) is a hereditary condition transmitted as an autosomal recessive (Bartter type 1 to 4) or dominant trait (Bartter type 5). The disease associates hypokalemic alkalosis with varying degrees of hypercalciuria. Here we presented a case (BS type Ⅱ) of a 17 years old female presented with polyhydramnios, polyuria, nephrocalcinosis and hypokalemia, which was alleviated after treatment with celecoxib and vitamin D(3). DNA sequencing identified compound heterozygous KCNJ1 gene mutations, c. 931C >T (p...
October 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29036195/mutational-and-large-deletion-study-of-genes-implicated-in-hereditary-forms-of-primary-hyperparathyroidism-and-correlation-with-clinical-features
#18
Elena Pardi, Simona Borsari, Federica Saponaro, Fausto Bogazzi, Claudio Urbani, Stefano Mariotti, Francesca Pigliaru, Chiara Satta, Fabiana Pani, Gabriele Materazzi, Paolo Miccoli, Lorena Grantaliano, Claudio Marcocci, Filomena Cetani
The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by direct sequencing of the coding region and multiplex ligation-dependent probe amplification (MLPA) assay in the largest monocentric series of Italian patients with Multiple Endocrine Neoplasia type 1 syndrome (MEN1) and Familial Isolated Hyperparathyroidism (FIHP). The study also aimed to describe and compare the clinical features of MEN1 mutation-negative and mutation-positive patients during long-term follow-up and to correlate the specific types and locations of MEN1 gene mutations with onset and aggressiveness of the main MEN1 manifestations...
2017: PloS One
https://www.readbyqxmd.com/read/29031489/-pediatric%C3%A2-nephrology-what%C3%A2-should-an%C3%A2-adult%C3%A2-nephrologist-know-about%C3%A2-these%C3%A2-diseases
#19
Sandrine Lemoine, Pierre Cochat, Aurélia Bertholet-Thomas, Charlène Levi, Catherine Bonnefoy, Anne-Laure Sellier-Leclerc, Justine Bacchetta
In nephrology, some diseases begin specifically during childhood; however, they must be known by adult nephrologists so that to ensure continuity and homogeneity for their management. The aim of this review is therefore to propose a brief overview of the main pediatric diseases, for which a specific knowledge is warranted, and notably pediatric idiopathic nephrotic syndrome, cystinosis, primary hyperoxaluria and hereditaries tubulopathies.
October 11, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/29031335/can-we-increase-our-health-span
#20
REVIEW
Carlos E Rivera-Tavarez
The deterioration of physical and mental capabilities is inevitable with aging. Some hereditary factors cannot be changed, but other external factors can be manipulated to provide our body with better weapons to improve quality of life as we age. Different cellular pathways leading to cell deterioration and aging usually act through excessive oxidative damage and chronic inflammation. Suppression of inflammation is the most important driver of successful longevity and increases in importance with advancing age...
November 2017: Physical Medicine and Rehabilitation Clinics of North America
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