Medical Applications

Question 1

Osteogenesis Imperfecta is due to

Answer 1

alpha 1 chains of collagen helix not assembling into fibers, OR, insufficient production of collagen

Question 2

Is osteogenesis imperfecta hereditery? Symptoms?

Answer 2

It is genetic. Bones are very brittle and eyes may appear bluish. Teeth abnormalities and chest deformities. Short stature.

Question 3

an imbalance in skeletal turnover is known as ____

Answer 3

osteoperosis.

Question 4

Why is osteoperosis more prevolent in post-menopausal women?

Answer 4

because the amount of estrogen decreases. Typically, estrogen inhibits osteoclast activity. without anything impeding osteoclast activity, there is an increase in bone breakdown.

Question 5

How is osteoperosis manifested? How could it be treated?

Answer 5

thinning and reduction of trabeculae. It could be treated by giving estrogen, or calcitonin (activates osteoblasts) supplements to inhibit osteoclast activity.

Question 6

What is osteopetrosis? Cause?

Answer 6

marble bone disease. Caused by a defective activity of osteoclasts. Manifested by overgrowth, thickening, and hardening of bones.

Question 7

Treatment for osteopetrosis

Answer 7

1) vitamin D (calcitrol) to help stimulate dormant osteoclasts and stimulate bone resoprtion
2) restricted calcium intake.

Question 8

Duchenne muscular dystrophy is characterized by:

Answer 8

rapid progression of muscle degeneration, eventually leading to loss of walking and death. Scoliosis may also occur, and muscle contrl of breathing begins to deteriorate.

Question 9

How is duchenne muscular dystrophy conveyed to children? What gene is effected?

Answer 9

its sex linked recessive. Due to a defective dystrophin gene: typically coats the sarcolemma

Question 10

How do muscle cells degenerate in duchenne muscular dystrophy?

Answer 10

muscle tissue eventually gets replaced by fat and fibers, eventually leading to paralysis.

Question 11

3 ways DMD can be diagnosed?

Answer 11

1) prenatal test
2) DNA test
3) muscle biopsy: small sample of muscle is extracted annd a dye is applied that reveals dystrophin. Complete absense of the protein indicates the condition. There is no cure. The only treatment is to improve the quality of life.

Question 12

How is huntingtons disease inherited?

Answer 12

autosomal dominant.

Question 13

What is the cause behind the symptoms of huntington’s?

Answer 13

Mutation leads to gradual damage of brain tissue (affects muscle coordination and leads to cognitive decline and dementia).

Question 14

symptoms of Huntington’s

Answer 14

The earliest symptoms are a general lack of coordination. As the disease advances, uncoordinated, jerky body movements become more apparent (chorea), along with a decline in mental abilities.

Question 15

what is chorea?

Answer 15

jerky body movements.

Question 16

___ ___ is a disease resulting in the destruction of myelin sheath around the axons of the brain and spinal cord

Answer 16

multiple sclerosis

Question 17

MS destroys what type of glial cell?

Answer 17

oligodendrocytes (makes myelin in CNS)

Question 18

Name three symptoms of MS

Answer 18

1) muscle weakness and lack of coordination
2) problems in speech and swallowing
3) cognitive impairment

Question 19

___ is the most common form of dementia

Answer 19

alzheimer’s

Question 20

what happens to the brain in alzheimers

Answer 20

plaques and tangles forms.