Mitofusin

Manifestation of CMT syndrome

As its name suggests, mitofusin is involved in mitochondrial fusion. It is a membrane protein, that is anchored in the outer membrane of the mitochondria. It has a specific structure divided into several parts. In fact, there are two specific proteins - mitofusin 1 and 2. The gene for mitofusin 1 (MFN1) is located on chromosome 3, the gene for mitofusin 2 (MFN2) on chromosome 1.

In the better studied mitofusin 2, its parts were named paddle (tip), trunk, neck and terminal GTPase. According to the proposed model, mitofusins 2 of two mitochondria must fuse, GTP cleavage, conformational change and outer membrane fusion occur. The inner membranes of the mitochondria fuse probably due to the OPA1 (optic atrophy 1) protein. OPA1 is also a GTPase, named after the syndrome caused by a mutation in its gene.

Thanks to this function, dynamic plasticity of mitochondria can occur inside the cell, as well as remodelling of the mitochondrial network. A mutation in the gene for mitofusin 2 causes a disease called Charcot-Marie-Tooth syndrome (type CMT2A).

Links

Related articles

• Charcot-Marie-Tooth syndrome

External links

• Database OMIM
  • http://omim.org/entry/608506 - MFN1
  • http://omim.org/entry/608507 - MFN2
  • http://omim.org/entry/605290 - OPA1

• Wikipedia. MFN2 [online]. [cit. 2011-04-07]. <https://en.wikipedia.org/wiki/MFN2>.

• https://en.wikipedia.org/wiki/MFN1
• http://www.nature.com/nrn/journal/v9/n7/fig_tab/nrn2417_F2.html
• https://en.wikipedia.org/wiki/OPA1
• https://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease