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Researchers reveal underlying genetic pathway behind neurological dysfunction of Rett syndrome

Researchers reveal underlying genetic pathway behind neurological dysfunction of Rett syndrome Medical researchers led by Kyushu University have revealed a possible underlying genetic pathway behind the neurological dysfunction of Rett syndrome. The team found that deficiencies in key genes involved in the pathology triggers neural stem cells to generate less neurons by producing more astrocytes the brain s maintenance cells. The researchers hope that the molecular pathology they identified, as reported in the journal Cell Reports, can lead to potential therapeutic targets for Rett syndrome in the future. Rett syndrome is a progressive neurodevelopmental disorder characterized by impairments in cognition and coordination with varying severity and occurs in roughly one in every 10,000 to 15,000 female births. However, it is difficult to initially identify because children appear to develop normally in the first 6-18 months.

Uncovering the genetic mechanism behind Rett syndrome

Uncovering the genetic mechanism behind Rett syndrome
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Eight Genes Convert Mouse Stem Cells to Egg-Like Cells

Eight Genes Convert Mouse Stem Cells to Egg-Like Cells December 18, 2020 When the female germline develops, oocyte growth is accompanied by many changes in gene expression, however, the regulatory networks that control this process have not been determined. Now, a group of researchers in Japan have identified a set of transcription factors that are sufficient to trigger oocyte growth. Even more astounding, there are only eight of them. The team reports that activating just eight genes is enough to convert mouse stem cells directly into oocyte-like cells that mature and can even be fertilized by sperm. On top of providing new insights into the mechanisms of egg cell development, the research may lead to a simple route for generating highly specialized substances unique to oocytes for use in reproductive biology and medicine.

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