Cellular Disorders

Everything that our bodies do each and every day is because of cells and their various functions If all or some of these cells lose their functions, bad things can happen

What are some types of cells that we know of? Muscle cells Nerve cells Epithelial cells Connective tissue cells Cells of the blood Lymphatic cells

What goes wrong with these cells? Cells may lose their function because one of the many parts of the cells starts to work incorrectly or doesn’t work at all.

What are some parts of the Cell? Mitochondria Lysosomes Endoplasmic Reticulum Golgi Nucleus Ribosome Plasma Membrane Others…

The Mitochondria--the part of the cell responsible for energy production--is very much like the power supplier that provides energy to your home. If the mitochondria (power supplier) is defective, your body cannot function as it should.

Mitochondrial Disease More than 40 known types Mitochondrial disease is a difficult disorder to identify because it can take many forms, and range from mild to severe.

Mitochondrial Disease The problems it causes may begin at birth or not occur until later in adult life. It is estimated that mitochondrial disease affects between 40,000 and 70,000 Americans, occurring in one in 2,500 to 4,000 births.

Problems That May Be Associated with Mitochondrial Cytopathies Organ Systems Possible Problems Brain developmental delays, mental retardation, dementia, seizures, neuro-psychiatric disturbances, atypical cerebral palsy, migraines, strokes Nerves weakness (which may be intermittent), neuropathic pain, absent reflexes, dysautonomia, gastrointestinal problems (ge reflux, dysmotility, diarrhea, irritable bowel syndrome, constipation, pseudo-obstruction), fainting, absent or excessive sweating resulting in temperature regulation problems Muscles weakness, hypotonia, cramping, muscle pain Kidneys renal tubular acidosis or wasting resulting in loss of protein, magnesium, phosphorous, calcium and other electrolytes. Heart cardiac conduction defects (heart blocks), cardiomyopathy Liver hypoglycemia (low blood sugar), liver failure Eyes visual loss and blindness Ears hearing loss and deafness Pancreas and Other Glands diabetes and exocrine pancreatic failure (inability to make digestive enzymes), parathyroid failure (low calcium) Systemic failure to gain weight, short stature, fatigue, respiratory problems including intermittent air hunger, vomitting

There is no cure for mitochondrial disease Some helpful treatments include vitamins such as thiamine (B1), riboflavin (B12), vitamin C, and vitamin E. Lipoic acid and coenzyme Q-10 are also useful supplements. Some researchers are examining using drugs to block lactic acid buildup in the body that is common in mitochondrial disease. Others are trying very low carbohydrate diets to reduce the workload for mitochondria.

Lysosomal Storage Diseases Lysosomal storage diseases are caused by the accumulation of macromolecules (proteins, polysaccharides, lipids) in the lysosomes because of a genetic failure to manufacture an enzyme needed for their breakdown. Neurons of the central nervous system are particularly susceptible to damage. Most of these diseases are caused by the inheritance of two defective alleles

Lysosomal storage disorders I-cell disease (mucolipidosis II) is a rare inherited metabolic disorder characterized by coarse facial features, skeletal abnormalities and mental retardation. The symptoms associated with this disorder typically become obvious during infancy and may include multiple abnormalities of the skull and face and growth delays. This disorder belongs to a group of diseases known as lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates.

Lysosome Disorders Tay-Sachs disease and Gaucher's disease — both caused by a failure to produce an enzyme needed to break down things sphingolipids Mucopolysaccharidosis I (MPS-I). Caused by a failure to synthesize an enzyme needed to break down proteoglycans

Sickle cell anemia is an inherited blood disease Sickle cell anemia is an inherited blood disease. That means you are born with it and it lasts a lifetime. Sickle cell anemia affects the red blood cells. Normal red blood cells are smooth and round like doughnuts. They move easily through blood vessels to carry oxygen to all parts of the body. In sickle cell anemia, the red blood cells become hard, sticky, and shaped like sickles or crescents. When these hard and pointed red cells go through the small blood vessels, they tend to get stuck and block the flow of blood. This can cause pain, damage, and a low blood count or anemia.

Sickle Cell Anemia

Sickle Cell Anemia

Now do you think your cells are important?