MTMR6
Title: MTMR6: A Gene Linked to Multiple Pathologies and Therapeutic Promise
Description:
MTMR6 (Myotubularin-related protein 6) is a multifaceted gene that plays crucial roles in various cellular processes. Mutations in MTMR6 have been implicated in a spectrum of disorders, including neurodegenerative diseases, metabolic conditions, and developmental abnormalities. Understanding the functions and dysfunctions of MTMR6 is essential for developing effective treatments for these conditions.
Associated Diseases:
- Centronuclear Myopathy (CNM): Mutations in MTMR6 are the primary cause of CNM, a rare and debilitating muscle disease characterized by weakness and hypotonia.
- Amyotrophic Lateral Sclerosis (ALS): MTMR6 mutations have been associated with an increased risk of ALS, a fatal neurodegenerative disease that affects motor neurons.
- Charcot-Marie-Tooth Disease (CMT): Certain MTMR6 mutations have been linked to CMT, a group of disorders that affect peripheral nerves and cause progressive muscle weakness.
- Diabetes Mellitus Type 2 (T2DM): MTMR6 has been identified as a potential risk factor for T2DM, a chronic metabolic condition characterized by high blood sugar levels.
- Developmental Delay and Intellectual Disability (DD/ID): Mutations in MTMR6 have been associated with DD/ID, a common cause of learning and cognitive difficulties.
Did you Know ?
In individuals with Centronuclear Myopathy, mutations in MTMR6 account for approximately 90% of cases.
