A PAC1R gene mutation is linked to the severity of social deficits in autism spectrum disorders. He discovered a study led by the Children's National Medical Center, conducted on 129 patients with autism spectrum disorders. The discovery could help identify the children most in need of help, so as to intervene with specific treatments.

Autism spectrum disorders may be related to a malfunction in the amygdala, the area that processes socio-emotional information. The PAC1R gene plays a key role in the development of the amygdala. Its malfunction could therefore be the cause of the characteristic social deficits of the autistic spectrum. Children with a mutation in the gene, in fact, suffer from serious social problems and their amygdala does not work as it should.

To test their thesis, the researchers analyzed gene expression during fetal development and immediately after delivery. Animal models showed abnormal expression of PAC1R at critical moments for brain development. The fetuses had high levels of gene expression, a phenomenon particularly evident among males. After a first study on animal models, the researchers moved on humans.

Of 129 patients aged between 6 and 14, 48 underwent magnetic resonance as well as DNA analysis. Children with the genetic variant showed alterations in the connection between amygdala and temporal lobes.

Source: medicalxpress.com

A study by The Mount Sinai Hospital and Mount Sinai School of Medicine in New York traces the first genetic map of the polycystic ovary. Scientists isolated 14 mutated genes common to patients with the disease. The discovery could make it easier to develop new treatments, especially for the most serious cases.

Polycystic ovary is an endocrine-metabolic disorder that affects about 7-10% of young women. Often causes a decline in fertility, especially in the most pronounced forms. The characteristic symptoms are: irregularities in the menstrual cycle; ovulation reduced or absent; excessive production of male hormones; acne.

The researchers involved about 100,000 women with polycystic ovarian syndrome. For the control group, however, involved another 100,000 women without the disorder. Scientists analyzed the genome of both groups, looking for common genes among women in the first group. This allowed them to isolate 14 mutated genes that could be the cause of the disorder.

Abnormal genes control metabolic and reproductive functions. In addition, some of them are associated with disorders such as depression, obesity and diabetes. It is not entirely clear how these 14 genes have an impact on the functioning of the ovaries. The study made it possible to better understand the syndrome, but the road is still long. In fact, to date, the diagnosis is often difficult due to the heterogeneity of the symptoms and the type of patients.

Today the hope is to simplify the diagnostic process and find new therapeutic approaches.

Source: tg24.sky.it

There are genetic diseases caused by mutation of a single gene. Neuropsychiatric disorders, on the other hand, involve hundreds of genes. To these genes are added the environmental factors and some elements hidden in the genome, which seem to regulate gene expression. All this makes the diagnosis and treatment of schizophrenia and other diseases even more complex. For this reason the PsychENCODE Consortium was born, which studies the link between gene associations and changes in their functions.

The research of the consortium is today the most complete genomic analysis on the human brain. Researchers entered molecular mechanisms, focusing on those linked to neuropsychiatric diseases. The results did not reveal all of the diseases analyzed, but revealed genes and pathways and types of cells connected to them. It could therefore give a great stimulus to the elaboration of new therapies.

The project has been going on since 2015 and until today has analyzed 2100 brain samples, all coming from people with psychiatric illnesses. The researchers analyzed DNA, RNA and proteins, looking for clarifications on brain architecture. They also analyzed RNA sequences from 1600 adult individuals with autism, schizophrenia, bipolar disorder or none of these diseases. In this way they have identified thousands of RNA molecules with a recurring partner.

Among the various studies conducted within the project, there is one related to the diagnosis of these diseases. Scientists have created an algorithm that analyzes a person's genome and gene expression. Starting from these data, he predicts the risk of developing a psychiatric illness and allows to intervene immediately.

Source: the-scientist.com