Cardiopatías

Nuevas asociaciones, mutaciones, polimorfismos: insuficiencia cardiaca, autismo, alcoholismo, …

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- Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
– The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
– Association of Genetic Risks With Autism Spectrum Disorder and Early Neurodevelopmental Delays Among Children Without Intellectual Disability
– Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations
– Functional validity, role, and implications of heavy alcohol consumption genetic loci

- Insights into the aetiology of snoring from observational and genetic investigations in the UK Biobank

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Nuevas asociaciones, variantes y mutaciones

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- Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy
– Exome Sequencing Identifies Susceptibility Loci for Sarcoidosis Prognosis
– Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
– Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

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Nuevas variantes y asociaciones de riesgo

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2019 07 03 CTCF- Risk of spontaneous preterm birth and fetal growth associates with fetal SLIT2.
– Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
– CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
– Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure.

Filed under Bioinformática, Cardiopatías, Defectos congénitos, Diagnóstico, Neurogenética, Polimorfismos by on . Comment. #

Novedades en edición del genoma

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- Bak RO, Dever DP, Porteus MH. CRISPR/Cas9 genome editing in human hematopoietic stem cells. Nature Protocols, 2018;13:358–376.
– Gao X, Tao Y, Lamas V, Huang M, Yeh WH, Pan B, et al. Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents. Nature, 2018;553:217–221.
– Behler J, Sharma K, Reimann V, Wilde A, Urlaub H, Hess WR. The host-encoded RNase E endonuclease as the crRNA maturation enzyme in a CRISPR–Cas subtype III-Bv system. Nature Microbiology, 2018;3:367–377.
– King A. A CRISPR edit for heart disease. Nature, 2018;555:S23-S25.
– Scott A. How CRISPR is transforming drug discovery. Nature, 2018;555:S10-S11.

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Nuevas variantes, mutaciones y asociaciones de riesgo

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- HSD3B1 and Response to a Nonsteroidal CYP17A1 Inhibitor in Castration-Resistant Prostate Cancer
– Association of HSD3B1 Genotype With Response to Androgen-Deprivation Therapy for Biochemical Recurrence After Radiotherapy for Localized Prostate Cancer
– Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
– Dose-dependent expression of claudin-5 is a modifying factor in schizophrenia
– Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

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Manipulación genética revierte insuficiencia cardiaca tras infarto

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2017 10 22 HippoLa inhibición de Hippo, una cascada intracelular en cardiomiocitos, induce un programa de reparación que mejora la función del corazón en un infarto o tras un fallo isquémico siguiente. Por tanto, el corazón en insuficiencia tiene una capacidad regenerativa mayor que la esperada, en opinión de los autores en Leach JP, Heallen T, Zhang M, Rahmani M, Morikawa Y, Hill MC, et al. Hippo pathway deficiency reverses systolic heart failure after infarction. Nature. 2017;550:260–264.

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Medicina genómica, lípidos y riesgo cardiovascular

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2017 07 22 ANGPTL3Dos estudios abordan las variantes genéticas en ANGPTL3, inhibidor endógeno de la actividad de LPL, y los resultados de su inhibición farmacológica con un anticuerpo monoclonal y oligonucleótidos antisentido: Dewey FE, Gusarova V, Dunbar RL, O’Dushlaine C, Schurmann C, Gottesman O, et al. Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease. N Engl J Med 2017;377:211-221, y Graham MJ, Lee RG, Brandt TA, Tai LJ, Fu W, Peralta R, et al. Cardiovascular and Metabolic Effects of ANGPTL3 Antisense Oligonucleotides. N Engl J Med 2017;377:222-232.

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Biomarcadores lipidómicos para hiperlipidemia y cardiopatías

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2017 04 16 OmicsLa utilidad de los ácidos grasos libres, las ceramidas y los ácidos grasos saturados de cadena pequeña, entre otros biomarcadores, para la hipercolesterolemia y los trastornos cardiovasculares, son revisados en Sneha R, Sonika B. Novel Lipidomic Biomarkers in Hyperlipidemia and Cardiovascular Diseases: An Integrative Biology Analysis. OMICS: A Journal of Integrative Biology. March 2017;21(3):132-142.

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