DNM2
DNM2 (Dynamin 2) is a gene that encodes a member of the dynamin family of GTPases. Dynamins are involved in endocytosis, a process by which cells internalize molecules and particles from their environment. The DNM2 gene is located on the short arm of chromosome 19 at position 13.2.
Function[edit | edit source]
The protein encoded by the DNM2 gene is involved in the scission of newly formed vesicles from the membrane during endocytosis. It plays a crucial role in the clathrin-mediated endocytosis pathway, which is essential for the uptake of nutrients, regulation of receptor signaling, and maintenance of cellular homeostasis.
Clinical Significance[edit | edit source]
Mutations in the DNM2 gene have been associated with several neuromuscular disorders, including Charcot-Marie-Tooth disease and centronuclear myopathy. These conditions are characterized by muscle weakness and atrophy, and they can vary in severity depending on the specific mutation present in the DNM2 gene.
Charcot-Marie-Tooth Disease[edit | edit source]
Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affect the peripheral nerves. Mutations in the DNM2 gene can lead to a subtype of CMT known as CMT2M, which is characterized by progressive muscle weakness and atrophy, particularly in the distal muscles of the limbs.
Centronuclear Myopathy[edit | edit source]
Centronuclear myopathy is a congenital myopathy that affects the skeletal muscles. It is characterized by the presence of centrally located nuclei in muscle fibers. Mutations in the DNM2 gene can cause a form of centronuclear myopathy that presents with muscle weakness and hypotonia from birth or early childhood.
Research and Therapeutic Approaches[edit | edit source]
Research into the DNM2 gene and its associated pathways is ongoing, with the aim of developing targeted therapies for the disorders caused by its mutations. Approaches such as gene therapy and small molecule inhibitors are being explored to modulate the activity of dynamin 2 and alleviate the symptoms of these conditions.
See Also[edit | edit source]
References[edit | edit source]
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