Cardiopatías

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.

Filed under Cardiopatías, Diagnóstico, Medicina personalizada, Polimorfismos, Tratamientos by on . Comment. #

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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Nuevos estudios de asociación genómica

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– Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease
– Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7
– Genome-wide analysis of blood gene expression in migraine implicates immune-inflammatory pathways
– A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases
– GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathway to panic disorder
– Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease
– 11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE project
– Commentary: Genome-wide association study identifies 74 loci associated with educational attainment

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Proponen estudios familiares como variante de casos y controles

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GWAXLa propuesta de emplear familiares en estudios de asociación genética para enfermedades poco frecuentes, estrategia denominada GWAX (del inglés genome-wide association study by proxy) fue evaluada en integrantes del biobanco del Reino Unido. La identificación de nuevos loci para la enfermedades de Alzheimer, arterial coronaria y la diabetes mellitus tipo 2 son hallazgos develados en Liu JZ, Erlich Y, Pickrell JK. Case–control association mapping by proxy using family history of disease. Nature Genetics 2017; doi:10.1038/ng.3766.

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