Paternal environmental exposure-induced spermatozoal small noncoding RNA alteration meditates the intergenerational epigenetic inheritance of multiple diseases / 医学前沿

Studies of human and mammalian have revealed that environmental exposure can affect paternal health conditions as well as those of the offspring. However, studies that explore the mechanisms that meditate this transmission are rare. Recently, small noncoding RNAs (sncRNAs) in sperm have seemed crucial to this transmission due to their alteration in sperm in response to environmental exposure, and the methodology of microinjection of isolated total RNA or sncRNAs or synthetically identified sncRNAs gradually lifted the veil of sncRNA regulation during intergenerational inheritance along the male line. Hence, by reviewing relevant literature, this study intends to answer the following research concepts: (1) paternal environmental factors that can be passed on to offspring and are attributed to spermatozoal sncRNAs, (2) potential role of paternal spermatozoal sncRNAs during the intergenerational inheritance process, and (3) the potential mechanism by which spermatozoal sncRNAs meditate intergenerational inheritance. In summary, increased attention highlights the hidden wonder of spermatozoal sncRNAs during intergenerational inheritance. Therefore, in the future, more studies should focus on the origin of RNA alteration, the target of RNA regulation, and how sncRNA regulation during embryonic development can be sustained even in adult offspring.

Uso de la genética en el diagnóstico de la miocardiopatía hipertróficafamiliar / Use of genetics in the diagnosis of familial hypertrophic cardiomyopathy

La miocardiopatía hipertrófica familiar es una enfermedad cardíaca primaria, autosómica dominante, caracterizada por la hipertrofia del ventrículo izquierdo en ausencia de cualquier otra enfermedad del corazón, como hipertensión o estímulo metabólico. La enfermedad afecta a personas de todas las edades, siendo la consecuencia más grave la muerte súbita. La miocardiopatía hipertrófica familiar es genéticamente heterogénea y se debe mayormente a mutaciones en las proteínas del sarcómero. En Estados Unidos, afecta a uno de cada 500 individuos y es probablemente la enfermedad cardiovascular hereditaria más común. El cuadro clínico asociado puede ser muy variable, ya que abarca desde personas que manifiestan una variedad de síntomas como síncope, disnea, angina y palpitaciones, hasta la ausencia de ellos. Hasta el presente, se han identificado más de 450 mutaciones en 20 genes que codifican distintas isoformas de las proteínas del sarcómero, donde los genes mybpc-3 y myh7 son los que mayormente exhíben mutaciones. Desde hace mucho tiempo, existen diversos laboratorios en el mundo que desean establecer un test genético como rutina, sin embargo, ha resultado seruna labor difícil por la complejidad de la enfermedad, y la heterogeneidad genética asociada.

Familial hypertrophic cardiomyopathy is a primary myocardial autosomal dominant disease, characterized by increased left ventricular mass and wall thickness in the absence of a pressure overload or metabolic stimulus. This disease affect to people of all ages, being the sudden death its principal consequence. FHC is genetically heterogeneous and can be caused by mutations in one of several sarcomeric genes. In the United States, affect nearly 1 in 500 people, being the most common genetic heart disease. Clinical expression of the disease vary markedly, and may include syncope, dyspnea, angina, and palpitation, but symptoms may also be absent, or be nonspecific. Until now it have identified more of 450 mutations in 20 genes of sarcomeric protein, being mybpc3 and myh7 genes are exhibited mainly mutations. The wish of the different lab at the worldis establish one genetic test for the diagnostic of the disease but is very difficult due to complexity of the disease and the genetic heterogeneity associated.