DDR2

DDR2: A Gene Linked to Alzheimer‘s and Autism

Description

DDR2 (Discoidin Domain Receptor 2) is a protein-coding gene that plays a crucial role in regulating the activity of collagen, a protein essential for the structure and function of tissues throughout the body. DDR2 is particularly involved in the signaling pathways that control cell growth, migration, and differentiation.

Associated Diseases

Mutations in the DDR2 gene have been linked to several diseases, primarily involving the nervous system and immune function:

• Alzheimer‘s Disease: DDR2 is a risk factor for developing late-onset Alzheimer‘s disease, a devastating neurodegenerative disorder characterized by memory loss and cognitive decline. Mutations in DDR2 have been shown to lead to increased production of amyloid-beta peptides, which accumulate in the brain and are believed to contribute to neuronal damage in Alzheimer‘s disease.
• Autism Spectrum Disorder (ASD): DDR2 mutations have also been associated with an increased risk of ASD, a range of childhood developmental disorders characterized by social and communication challenges. Studies suggest that these mutations affect the function of neurons and synapses, contributing to the behavioral symptoms of ASD.

Did you Know ?

Research has found that individuals carrying a particular variant of the DDR2 gene have a 2-fold increased risk of developing late-onset Alzheimer‘s disease. This finding highlights the significant impact that genetic factors can have on disease susceptibility.