MFSD7
MFSd7: A Versatile Regulator with Implications in Development and Disease
Description
Mitochondrial fission factor Sddf7 (MFSd7), also known as CHCHD4, is a key regulator of mitochondrial fission, the process by which mitochondria divide. MFSd7 is a multi-domain protein located in the outer mitochondrial membrane and contains several conserved domains, including a CHCHD4 domain, an AAA+ ATPase domain, and a transmembrane helix.
MFSd7 plays a crucial role in maintaining mitochondrial morphology and function. It forms oligomeric complex with another mitochondrial fission protein, Drp1, and coordinates the assembly and constriction of the fission ring around mitochondria, ultimately leading to their division.
Associated Diseases
Mutations in MFSd7 have been linked to several human diseases, including:
- Charcot-Marie-Tooth disease type 2A (CMT2A): A hereditary peripheral neuropathy characterized by muscle weakness and atrophy.
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A mitochondrial disorder affecting the brain, muscles, and other organs.
- Leigh syndrome: A severe neurodegenerative disorder that typically affects infants.
- Optic atrophy: A condition leading to loss of vision.
Did you Know ?
- MFSd7 mutations account for approximately 10% of all cases of CMT2A, the most common type of inherited peripheral neuropathy.
