1. Cellular Disorders

2. 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

3. 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

4. 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.

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

6. 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.

7. 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.

8. 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.

9. 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

11. 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.

12. 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

13. 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.

14. 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

15. 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.

16. Sickle Cell Anemia

17. Sickle Cell Anemia

18. Now do you think your cells are important?