This week in BMC Medicine: DNA and diagnostics – how epigenetics and clinical biomarkers can influence healthcare

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BMC Medicine recently published research showing that nicotine exposure during pregnancy in rats induces asthma in their offspring via epigenetic changes in germ cells. Importantly, the authors showed that these changes can affect two generations of offspring, thereby concluding that a grandmother’s smoking habits can lead to an increased risk of asthma in her grandchildren. In an accompanying commentary, Frances Leslie discusses the importance of effective smoking cessation strategies during pregnancy for children’s health.

Continuing the topic of how parents’ lifestyle choices can affect their children, new evidence in a study by Cathrine Hoyo and colleagues shows that obesity in fathers is associated with epigenetic changes in their offspring. The study described a decrease in methylation of the insulin-like growth factor 2 gene in newborns, suggesting that paternal obesity may disrupt normal imprinting in germ cells and affect the health of their offspring. However, a cautionary note is provided by Gudrun Moore and Philip Stainer in a commentary, explaining why these results should not be over-emphasized and further evidence should be gathered from whole genome studies.

Recent studies have also explored the epigenetic mechanisms involved in conditions such as migraine, where further understanding is important given the elusive etiology. Michel Ferrari and colleagues review recent evidence for the potential mechanisms behind migraine pathology, and argue that targeting specific epigenetic pathways with new drugs may provide therapeutic targets for novel prophylactic treatments.

While studies in epigenetics aim to offer mechanistic insights into various medical conditions, the development of biomarkers has focused on improved diagnostic and prognostic procedures. However, there has been limited success in the clinical application of many biomarkers, which was highlighted in a recent review by Eleftherios Diamandis in our Clinical biomarkers article collection . The development of glycoprotein tumor markers in particular has had limited success, and in their latest review Diamandis and colleagues describe the technical challenges associated with the translation of these as clinical tools. The paper also discusses how new technology will facilitate quantification of glycoprotein biomarkers in the future.

The clinical use of biomarkers has also been a topic of interest to psychiatrists, especially as potential markers for mood disorders. Carmine Pariante and colleagues review recent studies reporting that differential patterns of peripheral blood gene expression exist between patients with major depressive disorder and healthy controls. Intriguingly, the gene expression patterns are normalized when patients enter remission or start antidepressant treatment. Based on this evidence, the authors suggest that measuring patients’ changes in peripheral blood gene expression can be an important clinical tool to monitor the status of depression.

The link between cardiovascular disorders and depression in terms of vulnerability markers was studied in recent research using an animal model of major depressive disorder occurring after myocardial infarction (MI). Michael Berk and colleagues report that pro-apoptotic pathways in the heart are upregulated in rats with post-MI depression, providing insight into the mechanisms behind the increased incidence of depression in patients following MI.

It remains to be seen how far these clinical biomarkers need to be developed before they can be used in a clinical setting. However, the focus on how lifestyle choices and nutrition can affect future generations, and how these changes can be measured via non-invasive technologies is a promising step forward in clinical research.