A rare mutation in an Iranian family led researchers to potentially important determinants of risks for developing heart disease and osteoporosis. A recent study found that many family members with a single genetic defect had high blood pressure, high low-density lipoprotein (LDL) cholesterol levels, diabetes, and early onset coronary artery disease. Many of them also experienced unexplained hip fractures at young ages (Mani A et al. Science. 2007;315:1278-1282).
The cause of these effects was found within the gene that codes for LDL receptor-related protein 6 (LRP6). While this mutation is not found in most individuals in the population who develop heart disease or osteoporosis, it may provide clues to common abnormalities underlying altered glucose homeostasis, elevated blood pressure, dyslipidemia, and low bone density.
Hampton T. Genetic Flaw Linked to Early Heart Disease. JAMA. 2007;297(15):1643-1644. doi:10.1001/jama.297.15.1643