Genetic Link to ME/CFIDS? (Winter 2001)

Genetic Link to ME/CFIDS?
By Sherri Blair, MD

At the 11th International Congress of Endocrinology, held in Sydney, Australia, endocrinologist David Torpy, M.D. announced ME/CFIDS could be linked to a rare genetic mutation which acts by starving the body of cortisol, a steroid hormone. However, Dr. Torpy cautioned that this would be unlikely to be the only cause. With his research team at the University of Queensland, Dr. Tropy studied 32 patients of one Australian family who all suffered from ME/CFIDS and found evidence for this genetic link. If they inherited one copy of the mutated gene, they only produced half the normal amount of protein while those with two mutation copies produced none.

Patient groups in both Queensland and Victoria are in a new study to decipher whether this mutation is a rare or common defect in ME/CFIDS. Further trials will include various glucocorticoid supplements. The lack of this protein affects the transport of cortisol in the bloodstream. Those with this problem seem to have a problem which is worst upon awakening. Said Torpy, "If it turns out to account for even one percent of Chronic Fatigue Syndrome, then this would be a big advance, especially if it is treatable."

The National CFIDS Foundation * 103 Aletha Rd, Needham Ma 02492 * (781) 449-3535 Fax (781) 449-8606