| Abstrakt: |
A recent study conducted by the Siberian Branch of the Russian Academy of Sciences has provided new insights into Cohen syndrome, an autosomal recessive disorder caused by VPS13B gene mutations. The syndrome is characterized by intellectual disability, microcephaly, autistic symptoms, hypotension, myopia, retinal dystrophy, neutropenia, and obesity. The researchers generated induced pluripotent stem cells from two patients with Cohen syndrome and observed ultrastructural abnormalities in the neural stem cells and neurons derived from these cells. These findings suggest that Cohen syndrome shares similarities with neurodegenerative diseases and provide a valuable model for studying the causes of intellectual disability. [Extracted from the article] |
