Neuron: Scientists discover key genes in brain development

Release date: 2014-12-22

Recently, scientists have identified the genetic pathways responsible for the size of the brain. The team led by Dr. Bruno Reversade discovered the essential components of the genetic pathway responsible for the development of the central nervous system in humans and other animals.

By sequencing the genome of individuals with normal height but with a very small head size, these individuals have mutations in the KATNB1 gene, and studies have shown that this gene is important for normal human brain development. Microcephaly is a disease often associated with neurodevelopmental disorders. The baby's head circumference is measured at birth, and if it is smaller than the average, the baby is diagnosed with a microcephaly.

Microcephaly may be caused by various factors that can lead to abnormal growth of the fetal brain in the brain pregnancy or the degenerative process of the baby's brain after birth. In general, the life expectancy of individuals with microcephaly is reduced, as it is often associated with brain function, which is often associated with decreased mental retardation.

The team also conducted further experiments to determine the function of KATNB1, the exact mode of action of which is unknown in humans. Using organisms specifically designed to lack this gene, they realized that KATNB1 is critical for the brain to reach its correct size.

Zebrafish and mouse embryos without this gene cannot survive to a certain stage, and the size of the brain and head is significantly reduced. Their findings were published in the journal Neuron.

Sequencing and screening for this particular gene before birth or at birth may also help detect who will have neurocognitive problems in the general population in the future. Dr. Reversade said: We will continue to seek other genes that are important for brain development.

Source: Bio Valley

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