CMT 2A Research - mutations in mitofusin 2

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Hum Mol Genet. 2005 Oct 15;14 Suppl 2:R283-9.

Emerging functions of mammalian mitochondrial fusion and fission.

Chen H, Chan DC.

Mitochondria provide a myriad of services to the cell, including

energy production, calcium buffering and regulation of apoptosis. How

these diverse functions are coordinated among the hundreds of

mitochondria in a given cell is largely unknown, but is probably

dependent on the dynamic nature of mitochondria.

In this review, we explore the latest developments in mitochondrial

dynamics in mammals. These studies indicate that mitofusins and OPA1

are essential for mitochondrial fusion, whereas Fis1 and Drp1 are

essential for mitochondrial fission. The overall morphology of the

mitochondrial population depends on the relative activities of these

two sets of proteins.

In addition to the regulation of mitochondrial shape, these molecules

also play important roles in cell and tissue physiology. Perturbation

of mitochondrial fusion results in defects in mitochondrial membrane

potential and respiration, poor cell growth and increased

susceptibility to cell death. These cellular observations may explain

why mitochondrial fusion is essential for embryonic development.

Two inherited neuropathies, Charcot-Marie-Tooth type 2A and autosomal

dominant optic atrophy, are caused by mutations in mitofusin 2 and

OPA1, suggesting that proper regulation of mitochondrial dynamics is

particularly vital to neurons. Mitochondrial fission accompanies

several types of apoptotic cell death and appears important for

progression of the apoptotic pathway. These studies provide insight

into how mitochondria communicate with one another to coordinate

mitochondrial function and morphology.

[Guest guest]

Gretchen-

Do you know what autosomal dominant optic atrophy is exactly? Optic

meaning the eye right? Thanks so much for all the info you give us.

Barb