Ann: PMS Drug Candidate Effective In Human Brain Cells, page-5

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Restoring the missing Shank3 protein has the potential to improve or alleviate symptoms of several neurological and neurodevelopmental disorders. Shank3 is a scaffolding protein crucial for the proper functioning of synapses in the brain, and its deficiency or mutation is linked to various conditions. Some of the primary disorders that could see improvement include:

1. Phelan-McDermid Syndrome (PMS): This genetic disorder is directly associated with deletions or mutations in the SHANK3 gene. Symptoms include intellectual disability, developmental delays, and autism-like behaviors. Restoring Shank3 protein could potentially improve cognitive and behavioral functions in individuals with PMS.

2. Autism Spectrum Disorder (ASD): SHANK3 mutations are among the many genetic factors implicated in ASD. Enhancing Shank3 protein levels might help mitigate some of the core symptoms of autism, such as social communication deficits and repetitive behaviors.

3. Schizophrenia: There is evidence linking SHANK3 mutations to schizophrenia. Restoring Shank3 protein could potentially help alleviate some of the cognitive and behavioral symptoms associated with schizophrenia, such as impairments in thinking, emotional regulation, and perception.

4. Intellectual Disability: Mutations in SHANK3 are associated with nonsyndromic intellectual disability. By restoring the protein, there may be improvements in cognitive functions and learning abilities in affected individuals.

5. Epilepsy: SHANK3 mutations can also be associated with epilepsy. Proper functioning of Shank3 in synaptic signaling might help reduce the frequency or severity of seizures.

Research is ongoing to understand the full impact of SHANK3 on neurological and neurodevelopmental disorders. While restoring Shank3 protein presents a promising therapeutic strategy, further studies are needed to develop effective treatments and determine the precise benefits for each disorder.