Schizophrenia

Schizophrenia is a mental illness classified as a psychosis, which means that it affects psychological aspects such as thought, perception, emotions or will. This disease usually manifests in late adolescence or early adulthood.

The signs and symptoms of schizophrenia include hallucinations, which most often encompass imaginary voices, imaginary visions, smells, or the sensation of being touched. Delirium are also characteristic of schizophrenia. For example, affected individuals may be certain that they are a particular historical figure or that they are being conspired or controlled by others. Frequently, people with schizophrenia show a decreased ability to perform functions in school, at work, and in the social environment. Alterations of thought and concentration, inadequate emotional responses, erratic speech and behavior, and difficulty with personal hygiene and daily tasks are also signs of the disease. In addition, affected individuals may manifest a decrease in facial expression, and in some cases they become catatonic. Substance abuse and suicidal thoughts and actions are common in people with schizophrenia.

Other signs and symptoms of the disease may include movement problems such as tremors, facial tics, stiffness, bradykinesia and akinesia. In most cases these are side effects of medications that are administered to help control the disease. However, some individuals manifest movement abnormalities before starting pharmacological treatment. In addition, some people with schizophrenia have a slight impairment of intellectual function.

Psychotic disorders such as schizophrenia are different from mood disorders, such as depression and bipolar disorder, which mainly affect emotions. However, these processes can occur together. Individuals who exhibit intense characteristics of mood disturbances and schizophrenia are often diagnosed as schizoaffective hybrids.

It is likely that variations in numerous genes contribute to the risk of developing schizophrenia. Among them, there would be the ABCA13 (ATP binding cassette subfamily A member 13), C4A (complement component 4A), DGCR2 (DiGeorge syndrome critical region gene 2), DGCR8 (DGCR8 microprocessor complex subunit), DRD2 (dopamine receptor D2), MIR137 (microRNA 137), NOS1AP (nitric oxide synthase 1 adapter protein), NRXN1 (neurexin 1), OLIG2 (oligodendrocyte lineage transcription factor 2), RTN4R (reticulon 4 receptor), SYN2 (synapsin II), TOP3B (DNA topoisomerase III beta), YWHAE (tyrosine 3-monooxygenase / tryptophan 5-monooxygenase activation protein epsilon), ZDHHC8 (zinc finger DHHC-type containing 8), AKT1 (AKT serine / threonine kinase 1) and COMT (catechol-O-methyltransferase) genes.

In most cases, multiple genetic changes, each with a small effect, combine to increase the risk of developing the process. The ways in which these genetic changes are related to schizophrenia are not well understood, and the genetics of this disease is an active area of ​​research. Genetic changes can also interact with environmental factors that are associated with an increased risk of schizophrenia, such as exposure to infections before birth or severe stress during childhood.

Deletions or duplications of genetic material in any of several chromosomes, which can affect multiple genes, are also thought to increase the risk of schizophrenia. In particular, a microdeletion in a region of chromosome 22 (22q11) may be involved in a small percentage of cases of schizophrenia. Some individuals with this suppression have other characteristics besides schizophrenia, such as cardiac abnormalities, immune system problems and cleft palate. These individuals are usually diagnosed with an entity called 22q11.2 deletion syndrome.

The inheritance pattern of schizophrenia is usually unknown. The risk of developing schizophrenia is somewhat greater for the relatives of the people affected, compared to the general public; However, most people with a close relative who has schizophrenia do not develop the disease.

Tests performed in IVAMI: in IVAMI perform the detection of mutations associated with schizophrenia, by complete PCR amplification of the exons of the ABCA13, C4A, DGCR2, DGCR8, DRD2, MIR137, NOS1AP, NRXN1, OLIG2, RTN4R, SYN2 , TOP3B, YWHAE, ZDHHC8, AKT1 and COMT genes, respectively, and their subsequent sequencing.

Recommended samples: blood drawn with EDTA for separation of blood leukocytes, or card impregnated with dried blood sample (IVAMI can mail the card to deposit the blood sample).