Genetic alterations in chronic venous insufficiency.

We have previously reported on the possible role of mitochondrial myopathy with altered respiratory chain function in patients with chronic venous insufficiency. The lymphocytes of twelve individuals, eight with venous insufficiency and four controls were evaluated. The patients were all failures of vein valve transplant, had angiographic grade IV venous insufficiency and biopsy proven type II muscle atrophy in both the upper and lower extremities. All lymphocyte samples underwent mitochondrial DNA (mDNA) restriction enzyme analysis with either Kpn I, Eco RI, Ban HI, and/or Pst I. The analysis of the digested mDNA was performed utilizing Tris/Acetate agarose submarine gel electrophoresis. The patient group demonstrated a 100 to 200 base pair deletion in the mDNA. This preliminary study identifies a possible chromosomal deletion in the human genome which may be responsible for the pathogenesis of chronic venous insufficiency.