(CMT 2A): Mitofusin 2 Builds a Bridge between ER and Mitochondria

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Mitochondria are responsible for producing most of the energy that's

needed for our cells to function. In fact, they provide such an

important source of energy that a typical human cell contains hundreds of them.

A mitochondrial disease can shut down some or all the mitochondria, cutting off

this essential energy supply.

Most of the CMT mutations identified result in disrupted myelin production (like

CMT 1A), however a small proportion of CMT mutations occur in gene MFN2, which

doesn't have anything to do with myelin. Instead MFN2 controls behaviour of

mitochondria.

Recent research showed that the mutated gene MFN2 causes mitochondria to form

large clusters. In nerve cells these large clusters of mitochondria failed to

travel down the axon towards the synapses. It is suggested these mitochondria

clots make the synapses fail, resulting in CMT Type 2, affecting approximately

20-40% of people with CMT.

Calcium is(Ca2+) An ion is an atom or a group of atoms that has acquired a net

electric charge by gaining or losing one or more electrons.

Endoplasmic reticulum is a network of tubules, vesicles and sacs that are

interconnected. They may serve specialized functions in the cell including

protein synthesis, sequestration of calcium, production of steroids, storage and

production of glycogen, and insertion of membrane proteins.

Knowing what causes CMT 2A, now researchers can work on treatment/arrestment -

to control the efficiency of mitochondrial

uptake of Ca(2+) ions.

Gretchen