Schizophrenia is a complex neuropsychiatric disorder in which genetics plays a key role. A recent study focuses on the so‑called copy number variants, which are DNA fragments that, instead of having the usual amount, show duplications or — most relevant in this case — losses of genetic material.
A team of researchers from the Hospital Universitari Institut Pere Mata (HUIPM), the Institut de Recerca Biomèdica Catalunya Sud (IRB CatSud), and Rovira i Virgili University (URV) has led a study that sheds new light on why schizophrenia may appear earlier in some individuals than in others. The research, published in the scientific journal Schizophrenia Research, indicates that the loss of genetic material may influence the age at which the disorder manifests.
The study analyzes 836 participants — 323 with schizophrenia and 513 without — and focuses on a type of DNA alteration that includes small losses of genetic material. The findings emphasize that it is specifically these losses — and not duplications — that are linked to an earlier onset of the disease. Such losses can advance the onset of schizophrenia and are not harmless, as they may eliminate entire genes or regulatory elements that control how these genes function, potentially disrupting the balance required for proper brain development.
Researchers observed that people with schizophrenia show a higher overall burden of variations in DNA fragment quantity compared with healthy participants. This result reinforces the idea that structural alterations across our entire DNA play an important role in the development of the disorder.
Losses of genetic material are associated with an earlier onset. One of the key findings of the study is that the number of missing DNA fragments is related to the age at which schizophrenia begins. “Specifically, individuals with a greater lack of DNA fragments tend to develop symptoms earlier, while patients with later onset present levels similar to those of people without the disorder. This suggests that, beyond whether someone will develop schizophrenia, the total amount of copy number alterations could influence the age of onset,” explains the study’s lead researcher, Gerard Muntané.
Although each individual variation has a modest effect, the cumulative impact may influence the onset of the disease at the population level. The authors emphasize the need for larger and more diverse samples to confirm these results and to better understand the biological mechanisms involved in schizophrenia. This would allow earlier identification of patients at higher risk of early onset and guide strategies for early detection and personalized intervention.
Article reference
Muntané, G., Valle, A., Ramon-Cañellas, P., Martorell, L., & Vilella, E. (2026). The impact of CNV burden on age at onset of schizophrenia. Schizophrenia Research, 291, 12–19. https://doi.org/10.1016/j.schres.2026.02.006
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