Genetic Mutation and the Risk of Autism and Schizophrenia

DNA

The discovery of the roles of DNA in disease has led to the observation that cells depend on thousands of proteins to function optimally. However, gene mutations influence the functioning of these cells either beneficially or adversely. This is usually due to a change in the instruction carried by a gene to make a protein. This can cause a protein to malfunction or even affect signal transduction which might disrupt normal development or cause a medical condition. Genes themselves do not cause diseases, but genetic disorders are caused by mutations that cause a gene to function abnormally. For instance, the CFTR gene is implicated in cystic fibrosis. That is, a mutated version of the CFTR gene causes cystic fibrosis. The impact of gene mutations on health and development is well documented. Diseases can occur due to a defect in single or multiple genes. 

The identification of genetic risk factors for the determination of susceptibility to disorders has long been employed in the study of the pathogenesis of many diseases. Genome-wide experiments are improving our understanding of the molecular basis in the etiology of many diseases including neuropsychiatric disorders including schizophrenia.

Schizophrenia is characterized by symptoms ranging from positive to negative. The symptoms of this disease include hallucinations and delusions that are frequently accompanied by reduced emotions, speech and lack of interest. But the hallmark is possibly psychosis.

The question; does autism share common trait with schizophrenia? has been an issue of debate. The problem with the accurate diagnosis of these two conditions is inherent in their clinical presentation. Autism and schizophrenia are categorized as spectrum conditions; that is, the symptoms associated with these two conditions are seen at varying degrees. The conditions of social difficulties with schizophrenia overlaps with intense and undivided focus on particular interest in details that are seen in autism.  This makes accurate diagnosis really difficult.

A recent discovery cohort involving brain imaging and genome-wide association studies (GWAS) of 1721 healthy adolescents has shown that a point mutation in the zinc-transporter gene SLC39A8 may increase the risk of schizophrenia in adulthood. The research suggests that this may be due to alteration in the putamen volume in the adolescent brain. Furthermore, converging lines of evidence suggest that the SLC39A8 gene is accessible to pharmacologic manipulation. Hence, this gene may be a target for the discovery of a novel treatment for schizophrenia. This discovery has pointed out a new pathway of genetic risk that may disrupt the development of the adolescent brain. This discovery has been regarded as an “important finding” according to Javier Costas, Ph.D., from the Health Research Institute of Santiago de Compostela, Spain.

It is hoped that efforts in the field of Genome-Wide Association Study will enable the discovery of genetic risk factors in many neuropsychiatric disorders that will enable the development of therapies and effective formulations for the management of schizophrenia and autism.

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