CMT X connexins and demyelination 3 year research project to help MS

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Current Funded Research from Cyprus

(National MS Society)

Kleopas A. Kleopa, MD

The Cyprus Institute of Neurology and Genetics

Nicosia, Cyprus

Award: Research Grant

Term/Amount: 4/1/04-3/31/07; $219,750

" CNS connexins and demyelination in CMTX " Understanding the

involvement of a protein that may play a critical role in the health

and damage of nerve-insulating myelin and nerve fibers.

This investigation is taking an important discovery made in one

neurological disease and asking whether it holds a clue to MS. In an

inherited disease called Charcot Marie Tooth disease, or CMT, a gene

defect in a protein called connexin causes myelin loss in the

peripheral nervous system (outside the brain and spinal cord) and

also within the brain and spinal cord. In the brain and spinal cord,

several types of connexins are found in myelin-making cells called

oligodendrocytes, which are destroyed in MS. Kleopas A. Kleopa, MD,

is investigating whether genetic mutations – mistakes in the

molecular blueprints of connexins known to be involved in CMT – might

also be involved in the destruction of nerve-insulating myelin in MS.

Preliminary experiments have shown that mutations cause certain

connexins to be misplaced inside the oligodendrocyte instead of

reaching the surface where they are needed to properly form and

maintain myelin. Now Dr. Kleopa's team is studying the function,

location, and possible interactions among different connexins in

oligodendrocytes. The team is introducing connexin mutations into

mice to determine how oligodendrocytes and myelin are affected.

This study may shed new light on how a cellular defect in

oligodendrocytes can lead to myelin breakdown in the brain and spinal

cord, and may suggest ways to compensate for myelin loss in MS.

http://www.nationalmssociety.org/Research-Kleopa.asp