The Impact of Human Evolution on Disease

• Genetic changes during human evolution contributed to the development of bigger brains and upright walking

• These changes are now associated with diseases such as Alzheimer's, schizophrenia, and osteoarthritis

• Gene duplications unique to humans, such as Notch2NL and SRGAP2C, have potentially left us vulnerable to neuropsychiatric disorders

The genetic changes during human evolution, including bigger brains, upright walking, and other adaptations, are now associated with an increased risk of developing diseases such as Alzheimer's, schizophrenia, and osteoarthritis.

One study found that rapid evolution in the knee regulatory switches were necessary for bipedalism and may now be linked to osteoarthritis.

Genetic duplications unique to humans, such as Notch2NL and SRGAP2C, have potentially left us vulnerable to neuropsychiatric disorders. Notch2NL contributes to the development of bigger brains, while SRGAP2C allows humans to form more synapses. However, mutations in these genes are associated with disorders such as autism, schizophrenia, and intellectual disability.

Some research suggests that certain genes responsible for unique human traits and adaptation during evolution may now be vulnerable to dysfunction and disease. Regions of the genome involved in regulating brain development have high mutation rates and are associated with neuropsychiatric disorders like schizophrenia and bipolar disorder. Understanding these genes could potentially inspire new treatments.

References

1. https://www.bbc.com/future/article/20231122-the-genes-that-made-us-truly-human-may-also-make-us-ill