Biomarker May Bridge the Gap Between Genes and Disease

Schizophrenia has long been known to stem from a complex set of interrelated and interconnected genetic factors. Recent studies have also highlighted the importance of taking the degree of genetic expression into account. Now, Chinese researchers are beginning to identify a classification system that runs in parallel to gene expression.

A series of endophenotypes has been proposed to serve as biomarkers linking specific genetic manifestations with clinical symptoms. This will assist in bridging the gap between microscopic chemical reactions and macroscopic patient experiences, leading to a more holistic view of neuropsychiatric disease.

The most commonly invoked endophenotype in Western study is, broadly, cognition and cognitive deficits. According to Chinese scientists, as specific cognitive deficits are linked to specific genetic malformations, more precise diagnostic criteria will emerge and clinician will become more able to suggest a course of treatment customized to a particular patient's root causes.

Researchers involved in endophenotype studies are willing to admit that endophenotypes are never perfect reflections of genetic traits. While a one-to-one correspondence of cognitive or symptomatic effect to genetic cause would be convenient, it is simply not realistic for diseases shown to be as complex as schizophrenia. Rather, the benefit is in a negotiated middle ground, where multiple levels of endophenotypical expression (such as RNA or protein expression and neurocognitive effects) can be statistically analyzed in relation to one another.

By understanding what happens at the convergence of endophenotypes, clinicians will develop a deeper and more subtle appreciation for the root causes of disease.

Source: MedicalNewsToday.com

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