Rubinstein Marcelo
Instituto de Investigaciones en Ingeniería Genética y Biología Molecular, Consejo Nacional de Investigaciones Científicas y Técnicas. Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires.
Vertex. 2016 Sep;XXVII(129):368-373.
Epigenetics is the branch of genetics that studies the dynamic relationship between stable genotypes and varying phenotypes. To this end, epigenetics aims to discover the molecular mechanisms that explain how different nutrients and hormones, environmental changes, and emotional, social and cognitive experiences modify gene expression and behaviors, even permanently so. Psychiatry has learned that diseases with strong genetic predisposition, such as schizophrenia, show a concordance of around 50% between monozygotic twins, thus evidencing the importance of the genetic background and the presence of environmental variables that stimulate or block phenotypic development. The interest in epigenetics has increased during the last few years due to fundamental discoveries made in molecular and behavioral genetics, although within this framework factual knowledge coexists with fictional expectations and wrong concepts. Is it possible that epigenetic variants modify temperament and human behavior? May abused or neglected children develop long-lasting epigenetic marks in their DNA? May bipolar states correlate with different epigenetic signatures? Studying these subjects in not an easy task, but experiments performed in lab animals suggest that these conjectures are reasonable, although there is still a long distance between hypotheses and scientifically proven facts.
表观遗传学是遗传学的一个分支，研究稳定基因型与可变表型之间的动态关系。为此，表观遗传学旨在发现分子机制，以解释不同的营养物质、激素、环境变化以及情感、社会和认知体验如何改变基因表达和行为，甚至可能是永久性的改变。精神病学已经了解到，具有强烈遗传易感性的疾病，如精神分裂症，在同卵双胞胎中的一致性约为50%，这证明了遗传背景的重要性以及刺激或阻碍表型发展的环境变量的存在。由于分子和行为遗传学方面的重大发现，在过去几年里，人们对表观遗传学的兴趣有所增加，尽管在此框架内，事实性知识与虚构的期望和错误观念并存。表观遗传变异有可能改变气质和人类行为吗？受虐待或被忽视的儿童会在其DNA中形成持久的表观遗传标记吗？双相情感状态会与不同的表观遗传特征相关吗？研究这些课题并非易事，但在实验动物身上进行的实验表明，这些推测是合理的，尽管从假设到科学验证的事实仍有很长的路要走。
