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Genetic defect found in sporadic cases of pulmonary hypertension

In a study published in the October issue of the Journal of Medical Genetics, the same genetic defect that occurs in familial primary pulmonary hypertension has been found in sporadic cases of the disease, where there is no family history.Recent research has implied that in familial instances defects in the BMPR-II gene affect cell-signalling processes that may be vital for growth and turnover. Professor Richard Trembath and his team at the University of Leicester studied 50 patients with primar

October 16, 2000

In a study published in the October issue of the Journal of Medical Genetics, the same genetic defect that occurs in familial primary pulmonary hypertension has been found in sporadic cases of the disease, where there is no family history.

Recent research has implied that in familial instances defects in the BMPR-II gene affect cell-signalling processes that may be vital for growth and turnover. Professor Richard Trembath and his team at the University of Leicester studied 50 patients with primary pulmonary hypertension, but no known family history, to determine whether the same genetic defects were occurring. They decoded the DNA pattern for BMPR-II from tissue taken from the pulmonary arteries and found different BMPR-II defects in only 13 of the patients. At least one in four of the patients shared the same genetic defect as those with the familial form. The authors suggest that their findings underline the potential for future treatments that concentrate on the altered cell signals arising from the genetic defect.

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