Osteoporosis is a disease in which is characterized by weak and brittle bones and the deterioration of micro-architectural bone tissue. Osteoporosis is considered an emergency medical condition.
In order for a biochemical marker to be ideal it must have these characteristics: biological plausibility; association between biomarker and fracture in the target population; and consistent change in response to therapy.2
Bone turnover markers are material that is measured in blood and urine. These markers reflect the metabolic activity of bone.2 Bone markers is divided into two different marker, formation and reabsorption markers. Osteoblastic cells produces bone formation turnover. The degradation products of osteoclasts are the reabsorption markers.2
Vitamin D1 alpha hydroxylase is responsible for converting 25-OH-VitD to 1, 25-OH-VitD. This form is required for proper intestinal calcium absorption.
Lower calcium levels induce increased mineral reabsorption from the bone. This is commonly known as Vitamin D dependent rickets type I. This may lead to osteomalacia and rickets. An appropriate treatment would include gene therapy.
CaR plays a role in calcium homeostasis; A mutation that causes a defect in the parathyroid calcium receptor (CaR) could lead to an onset of hypocalcemia for hypercalcemia. This will ultimatley depend on whether the mutation is causing an activation or repression of receptor.
Iron is essential to the body. An excess amount of iron in the body causes dysfunction of the organs. When iron accumulates and builds up within the liver, it can result in severe liver damage.
Fe2+ ions exchange electrons with Fe3+ ions and forms iron toxicity in humans. This allows for hydrogen peroxide to convert to free radicals; this is commonly known as reactive oxygen species (ROS). The conversion of peroxide to free radicals results in peroxidation of lipid membranes and causes cell damage within the liver.
When the liver is damaged hepatic perivascular cells are activated. The activation of these cells initiates liver fibrosis. The hepatic perivascular cells are targeted by inflammatory stimuli and make for connecting cells to multiply. The damaged hepatocytes cause the release of ROS and inflammatory mediators. Cirrhosis is caused from interrupted liver function and will potentially end in liver failure or cancer.
Hemochromatosis is defined as the build up or overabundance of iron within the body. There are two causes of hemochromatosis and they are classified as either primary or secondary.
Primary hemochromatosis is resulted from a defect in the genes that regulates how much iron is absorbed into the body. This gene is known as HFE gene. Having a defect in the HFE gene will allow the body to absorb too much iron. If you receive an HFE gene from each of your parents, you are at risk of having primary hemochromatosis.3
Secondary hemochromatosis is described as having an abundance of iron within the body due to another disease or condition. Such conditions include, anemia, atransferrinemia, aceruloplasminemia, chronic hepatitis C, or alcoholic liver disease. Other secondary factors can include blood transfusion, iron pills or injections, and kidney dialysis. 3