Musculoskeletal disease

Question 1

Nemaline myopathy

Answer 1

genetic changes in 6 genes that make up the sacromere

Question 2

What happens if whole muscle cannot coordinate

Answer 2

will be rips in plasma membrane as muscle cells which causes muscle death and weakness

Question 3

muscle

Answer 3

has its individual fascicles -these are made up of myocytes.Myocytes are made up of multiple bundles of myo fibrils

Question 4

paramecium

Answer 4

each fascicle surrounded by ECM

Question 5

Endomysium

Answer 5

each muscle cells surrounded by ECM

Question 6

Muscular dystrophy

Answer 6

progressive muscle weakness-defect in dystrophin protein which connects dystroglycagen complex to ECM.X linked disease

Question 7

what happens if the dystroglycagen complex is disrupted ?

Answer 7

contractions cannot be coordinated with contraction of ECM+sacromere the muscle contractions will not coordinate with contraction of ECM

Question 8

Neuro muscular disease

Answer 8

diseases of signalling from the brain to the muscle to contract

Question 9

Spinal Muscular Atrophy(SMA)

Answer 9

genetic or inherited diseases which affect the nerves that cause muscle contraction

Question 10

Bone diseases

Answer 10

due to defects in base structure of the bone

Question 11

What can bone diseases be caused by?

Answer 11

metabolic abnormalities:results in fewer minerals needed for strong bones e.g calcium, phosphorus or vitamin D

Question 12

what are osteoblasts and osteocytes derived from?

Answer 12

mesenchymal stem cells

Question 13

what are osteoclasts derived from?

Answer 13

haemolytic stem cells

Question 14

what happens to osteoblasts and osteocytes as old age increases

Answer 14

fewer osteoporosis cells that give rise to osteoblasts and osteocytes -leads to less bone formation

Question 15

function of osteocytes as age increases

Answer 15

reabsorbing bone activity goes up

Question 16

osteoporosis

Answer 16

imbalance happens as there are less osteoblasts so less bone forming cells in bone and fewer osteocytes however more osteoclasts which are chewing up bone

Question 17

Pagets disease

Answer 17

occurs in single or multiple bones in common sites such as spine, skull, pelvis and thigh(femur)

Question 18

what does gene mutation cause?

Answer 18

more osteoclasts than osteoblastswhich form excess and weaker bones in the wrong place

Question 19

what is the key component of ECM

Answer 19

collagen genes

Question 20

Osteogenesis imperfecta

Answer 20

mutation in collagen gene which disrupts the triple helix structure which makes collagen fibre outside the cell

Question 21

Bone cancer

Answer 21

happens due to secondary tumours that arise from defects elsewhere

Question 22

Ehlers-Danios syndrome

Answer 22

caused by mutations in collagen 1,3 and 5 which are expressed in articular cartilage

Question 23

Osteoarthritis

Answer 23

degenerative Arthritis which is caused due to loss of cartilage between ends of the long bones

Question 24

Osteoarthritis cartilage

Answer 24

chondrocytes are senescent so they can’t secrete ECM to make up more of the cartilage

Question 25

Rheumatoid arthrits

Answer 25

immune system thinks cartilage is a foreign body therefore produce antibodies and own body attacks the cartilage.In autoimmune response it gives rise to immune cells which attack ECM -which causes loss of ECM and loss of control sites