SHANK3 : SH3 and multiple ankyrin repeat domains 3
The Intriguing SHANK3 Gene: A Vital Player in Neurological Functioning
Description
The SHANK3 gene is a crucial genetic blueprint that governs the production of a multifaceted protein called SHANK3. This protein is ubiquitously present throughout the human body, with its highest concentration residing within the intricate workings of the brain. The SHANK3 protein plays an indispensable role in the functioning of synapses, the microscopic gateways that facilitate communication between nerve cells (neurons). Within these synapses, SHANK3 serves as a molecular scaffold, providing structural support to ensure that signals are efficiently transmitted from one neuron to another.
Role in Dendritic Spine Formation and Maturation
Beyond its essential role in synaptic functioning, the SHANK3 protein is also deeply involved in the formation and maturation of dendritic spines. Dendrites, akin to neuronal extensions, are vital for transmitting nerve impulses. Dendritic spines, as their name suggests, are tiny protrusions emanating from dendrites that further enhance impulse transmission, fostering enhanced communication between neurons. The SHANK3 protein orchestrates intricate molecular processes that govern the growth and development of these dendritic spines.
Associated Diseases
Mutations and variations within the SHANK3 gene have been linked to a spectrum of neurodevelopmental disorders, including autism spectrum disorder (ASD) and Phelan-McDermid syndrome. These disorders are characterized by impairments in social interaction, communication difficulties, and intellectual challenges. Understanding the molecular underpinnings of these conditions can pave the way for the development of targeted therapies that alleviate symptoms and improve outcomes.
Did you Know ?
Approximately 1 in 100 individuals with autism spectrum disorder (ASD) carry a mutation in the SHANK3 gene. This statistic underscores the significant contribution of genetic factors to the development of ASD and highlights the importance of ongoing research in this field.
