Causal mechanism behind rare hereditary diseases
Researchers have investigated in detail how BPTA syndrome, an extremely rare hereditary condition, arises. A change in the charge of a protein disrupts cellular self-organization, resulting in a developmental disorder. The team also identified hundreds of comparable genetic changes associated with various conditions, such as brain development disorders and predisposition to cancer. This mechanism could be the cause of numerous unexplained diseases and health conditions.
Materials provided by Charité – Universitätsmedizin Berlin. Note: Content may be edited for style and length.
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