JAX Associate Professor Greg Cox discovered that mutations in NEMF, a key component of RQC, cause neuromuscular disorders in mice. He also identified human patients with pathogenic variants in NEMF who exhibit both motor neuron dysfunction and intellectual disabilities, underscoring RQC’s clinical importance.
A complicated three-dimensional network involving proteins and specific DNA sequences helps regulate the expression of genes. New work led by JAX’s Chia-Lin Wei shows how one protein, SOX2, plays a significant role in neural stem cells, affecting many aspects of development and function.
Consider this scenario: Jayne is 50 years old and has experienced progressing neurological symptoms over the past two years with no diagnosis. She recently had exome testing which show no genetic variants that explain her symptoms, but identifies a pathogenic variant (mutation) in MSH6.
A collaborative team from UConn and The Jackson Laboratory have characterized neuron diversity in the lateral hypothalamic area (LHA), a critical coordinator of fundamental behaviors in the brain. The results provide important clues for understanding LHA neural circuits and the potential development of targeted neuropsychiatric therapies.