How to Detect Schizophrenia-associated Rare Genetic Variants?

Researchers identified rare disease-associated genetic variants in patients with severe schizophrenia.

Examining genetic mutations in individuals with severe schizophrenia can improve the ability to detect disease-associated rare genetic variants, shows a new study published in the Proceedings of the National Academy of Sciences.

Schizophrenia is a serious mental disorder with a diverse spectrum of observable symptoms such as hallucinations, delusions, and extremely disordered thinking and behavior that impairs daily functioning, and can be disabling.

About Schizophrenia
Schizophrenia is a mental disorder characterized by symptoms of thought, behavior and social problems.

‘A new paradigm shift in Schizophrenia focuses on the genetic signal through severely affected patients.’

In this study, researchers focused on a group of 112 patients with severe, extremely treatment-resistant schizophrenia who have required long-term hospitalization in New York State inpatient facilities.

“The hypothesis is that these patients might have a greater prevalence of disease-causing mutations because they have such a severe form of the illness, and that’s what we ended up seeing,” said Zoghbi, corresponding author of the study and Beth K. And Stuart C. Yudofsky Scholar at Baylor.

Researchers examined mutations across a set of intolerant genes, which are infrequently mutated in the healthy, general population.

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Later, they conducted genetic sequencing and examined the burden of rare, damaging variants impacting gene function in three groups: people with severe schizophrenia, people with typical schizophrenia, and a control group of healthy individuals.

More than 48% of individuals with extremely treatment-resistant schizophrenia carried at least one of the rare, damaging variants, versus approximately 30% of those with typical schizophrenia and 25% of the control group.

Mental Health - Neurosis vs Psychosis
Mental well-being is a concern and abnormal coping of emotions can lead to neurosis or psychosis. Mental illnesses can range from depression, anxiety, phobias to schizophrenia and affective disorders.

The severe schizophrenia group also had a higher variant burden in genes previously associated with schizophrenia than the group with typical schizophrenia.

Identifying rare variant risk factors in individuals with severe schizophrenia could lead to a better understanding of prognosis and treatment resistance and more opportunities for genetic counseling for families impacted by this disease.

Quiz on Schizophrenia
Schizophrenia is a mental disorder that affects young adults; nearly 7% of the adult population is affected by this condition. Check out how much you know about schizophrenia by taking this quiz.

This study also may lay the groundwork for future research on therapeutics to target genetic mutations associated with schizophrenia.

Source-Medindia