Health through Science

Gaucher disease is a rare genetic disorder wherein the body lacks the ability to break down a specific kind of fat, which leads to accumulation thereof around various parts of the body, such as organs and bones. Eliglustat is one of the most common medications prescribed to help treat the disease by reducing production of the fat itself.  The disease is an inherited lysosomal storage disorder which is caused by an enzyme deficiency, specifically a low level of glucocerebrosidase. This enzyme breaks down a fat with a similar name, glucocerebroside. When the body lacks production of the enzyme, the fat accumulates around and in cells of the spleen, liver, and bone marrow. This causes a variety of symptoms in patients, and can present itself in bizarre ways like: enlarged spleens and livers, increased bone pain and occurrence of fractures, fatigue, anemia and even increased bruising.  Eliglustat, the medicine provided to patients, works in one way: substrate reduction. Basically,...

Myasthenia Gravis (referred to as MG in the article) is an autoimmune disorder in the nerves and muscles, which is known for its symptoms of weakness and very rapid fatigue of voluntary muscles. It is often managed by a corticosteroid called prednisone, due its potent immunosuppressive and anti-inflammation properties.  Prednisone is a synthetic corticosteroid which acts a lot like cortisol, the human stress hormone produced by the adrenal caps. Basically, it reduces inflammation and suppresses the immune system in different ways. It suppresses the immune system by decreasing the activity and volume of lymphocytes (aka the immune cells), thus reducing production of antibodies. This is related to MG, since patients of MG have acetylcholine receptors on cells which keep getting attacked by antibodies. By reducing antibody production, pain is reduced in patients. It also works by inhibiting the release of inflammatory cytokines (a cell signaling molecule) and mediators, this reduces t...

Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder characterized by its name. People with Pompe disease have cells with excess accumulation of glycogen, which leads to progressive muscle weakness and problems with breathing (respiratory issues.) Alglucosidase alfa therapy is a recombinant enzyme replacement therapy, which basically means that it replaces the enzyme that patients are deficient in. This therapy works to replace alpha-glucosidase, the enzyme acid which breaks down excess glycogen.  In people with Pompe disease, symptoms manifest in two ways: loss of muscular strength and inability to breath efficiently. This is because, the deficiency of alpha-glucosidase leads to buildup of the glycogen in lysosomes, which are crucial organelles for muscle cells. However, when alglucosidase alfa therapy is administered and the enzyme is taken up by the patient's body, they receive enough of the enzyme for the cells to take it in using recep...

Primary Biliary Cholangitis (commonly referred to as PBC) is an autoimmune disorder where your body gradually destroys the bile ducts within your liver. It is a chronic liver disease. The disease primarily affects middle aged women. In PBC, your immune system mistakenly attacks those liver bile ducts, causing inflammation, fibrosis, and eventual cirrhosis and death of the cells involved. This leads to impaired flow of bile, a liquid crucial for digestion. When the bile flow is obstructed, it builds up in the liver, and causes liver failure over time. Symptoms of PBC include: fatigue, itching (called pruritus in medical terms), jaundice (yellow eyes and skin) and hepatomegaly (an abnormally large liver caused from the buildup of bile.)  To treat PBC, a medication called obeticholic acid (OCA) is used. Obeticholic acid is an agonist (i.e. stimulator) of a certain receptor called FXR, which is involved in regulation of the synthesis of bile, transport of bile and metabolism. OCA activ...

Paroxysmal Nocturnal Hemoglobinuria is a very rare, and life-threatening condition of the blood wherein your body destroys red blood cells (the cells which give you oxygen.) It is characterized by the hemolysis (aka the breakdown of those cells), thrombosis (clots of blood in your veins or arteries), and even impaired bone marrow function. Eculizumab is one of the most useful medicines for PNH, because of the significant improvements it yields in patients with the condition.  PNH is an acquired disorder, which results from a mutation in a specific gene called the PIGA gene. This gene is responsible for the synthesis of proteins which protect your red blood cells from getting destroyed by your immune system. When these proteins are not produced because of the PIGA gene mutation, you acquire the symptoms of PNH.  Symptoms of PNH include but are not limited to: dark urine, especially at night or in the morning, since hemoglobin is being released into it; blood clots causing throm...

Fabry disease is a rare genetic disease which is caused by a deficiency of a certain enzyme called alpha-galactosidase A (AGA). An AGA deficiency leads to the buildup of a certain type of fat called GL-3 in tissues, which causes a variety of symptoms and can present itself in different ways. Agalsidase beta is an enzyme replacement therapy that is used to treat the disease.  Fabry disease is a X-linked lysosomal storage disorder which is caused by mutations in the GLA gene. The GLA gene is the one that codes for AGA. The enzyme is crucial for breakdown of GL-3. When GL-3 builds up in cells due to the deficiency caused by Fabry disease, the patients experience symptoms like pain in hands and feet, rashes, very low amounts of sweat, opacity in the cornea (vision problems), GI issues, and kidney damage.  Agalsidase beta replacement therapy works by replacing the deficiency enzyme and therefore causing a reduction in GL-3 accumulation. It provides the functional enzyme to the body...

Wilson's disease is an autosomal recessive genetic disorder, which is caused by mutations in a gene called ATP7B. This gene is the gene responsible for regulating the transport of copper and excretion of it outside the body. When this gene has mutations, it leads to copper accumulation inside the body, beginning in places like the liver, and eventually spreading to the brain and kidneys, causing symptoms such as: Hepatitis, cirrhosis, liver failure, tremors, difficulties in speaking, depression, psychosis, personality changes and even copper deposits in the cornea in the shape of rings, and some renal problems.  To treat Wilson's disease, cuprimine is administered in patients. It is a chelating agent, meaning that it is a substance which easily bonds with metal ions to form complexes. It bonds to copper ions, turning into a stable complex; this lets it be excreted through urine much more easily. By binding to the ions, cuprimine consumption results in a lower copper concentrati...