Using a Single-Cell Sequencing Technique, Brazilian Researchers Have Cell Atlas of Focal Cortical Dysplasia (FCD), A Malformation of the Cortex that LEADS to Drag-East . These cases are most common in children and adolesments, accounting for up to 50% of epeilepsy surgeries in this age group.

With the atlas, it was possible to characterize the different cell types present in the brain lesion and determin which ons are involved in the disease. The result opens the way for the development of new specific treatments for this type of dysplasia.

The molecular mechanisms responsible for Epileptic Seizures in Patients with FCD are poorly undersrstood. People with Severe Cases Can Haveen 40 and 50 Seizures A Day, with Loss of Consciousness and Falls. When medicines fail to control the seizures, surgery is an option, but it carries risks, such as vision, hearing and speech problems.

In a study Published in the journey ISCIENCEThe Researchers were abled to map at cellular resolution Restion through biochemical processes without changing the DNA Sequence) . These mechanisms regulate how to go activated or deactivated to produce proteins and other functional molecules, Known as gene expression.

The study also identified subpopulations of neurons, microglia and astrocytes involved in the disease. This group of cells forms the cerebral cortex and ensures the functioning, protection and adaptation of the nervous system.

The research identified a specific Neuronal Population in FCD Patients Characterized by the expression of nefm+ neurofilament (a neuronal protein), which inclusions the so-called dysmorphic neurons. These are abnormal cells found in the cortex of these patients that are responsible for the al ared synapses that cause epileptic seizures.

As for Microglia (Immune System Cells Located in the Brain), two subpopulations washed, called cd74+ and cd83+. These may be associateed with immune activation and neuroinflammation.

“Using an advanced genomic technique, we obtained a cellular and therefore extramely detailed View of this brain malformation. ons in the upper layers, as well as immature astrocytes and populations of Microglia expanded in the lesions and associateed with inflammation. Utational Biologist Diogo Veiga, Corresponding Author of the Article.

A Resarcher at the School of Medical Sciences of the State University of Campinas (FCM-Unicamp), Veiga is Part of the team at the Brazilian Institute of Neuroscience and Neurotechnology (brainn).

In the work that began in 2021, the group generated a dataset of 61,525 Single cells from 11 clinical samples of focal cortical dysplasia lesions obtained from patients and from com. Single-cael sequencing is an advanced molecular biology technique that allows genetic material (dna or rna) Pacific characteristics of the lesions studied.

One of the challenges was analyzing the Amount of data.

“We spent a long time developing the computational workflow and testing different Approaches to be alive .D. Thesis Student Isabella Cotta Galvão, First Author of the Article.

The work has been presented at National and International Events, Including The Human Cell Atlas Latin America Symposium in July 2024, which briefther researchrs in the fiel-single- Single-Cell Genomics.

In order to increase Knowledge on the topic in brazil, Researchers ISCIA Lopes-Cendes and Jaqueline Geraldis, Both from FCM-Unicamp and Authors of the Article, Oorganized the Event ” Spatial omics in biomedical research “last November . The workshop marked the launch of single-call and spatial omics brazil, a scientific communication dedicated to fostering collecting and advancing this field in the country.

Epilepsy, a neurological disease with no cure, Affects Approximately 50 Million People Worldwide, According to the World Health Organization (WHO). In brazil, there an estimated 2 million cases. Last year, the largest study ever published on the Subject in the World Revealed A Kind of “Genetic Architecture” Of the Disease, Identifying 26 Areas of the Genome Associateed with the disorder. Brazil was the only Latin American Country represented through brainn.

Next Steps

The results of the study have been inced into the cellxgene cell database, which is part of the human cell atlas consortium. Founded in 2016, The Consortium has more than 3,000 members in 99 countries, bringing togeing togeing togeing togeing togeing toge, clinicians, technologies, physicists, computer scientists, softwares and mathematicians.

As a result, other groups can use this data in their research and try to find more targeted treatments for focal cortical dysplasia.

“This type of data sharing is essential today to accelerate program in medical research. .

Veiga says his group is now using the same Single-Cell Technique to Study Infant Brain Development and Another Type of Dysplasia to see if there are any similarities.