Facts Flashcards
(369 cards)
What is NADPH required for?
Fatty acid biosynthesis
Steroid synthesis
GSH regeneration
Functions of the Pentose Phosphate Pathway
- Produce NADPH in cytoplasm
- Biosynthesis reducing power for lipid synthesis - high activity in liver and adipose tissue.
- Maintain free cysteine groups SH on certain proteins and prevent oxidation to -S-S- disulphides bonds
- Produce C5 sugar for nucleotides - high activity in dividing tissue for example bone marrow
A deficiency is G6PDH causes what is RBCs?
In RBCs the level of NADPH decreases which results in inappropriate disulphides bonds forming which forms aggregated proteins called Heinz bodies. This increases the cells likelihood of haemolysis.
Osteogenesis Imperfecta
brittle bone
• Mutation in the COL1A gene
• Incorrect production of collagen 1 fibres
• Weak bones and increased risk of fracture
• Shortened stature
• Blue sclera
• Hearing loss
Rickets
- Mainly affects children
- Vitamin D deficiency
- Poor calcium mobilisation
- Ineffective mineralisation
- Weakened bone development
- Soft bones
- Shortened height and stature
- Painful to walk
- Bowed legs
Osteomalacia
- Rickets in adults
- Vitamin D deficiency
- Lower mineralisation
- Increased osteiod
- Increased calcium resorption
Primary osteoporosis
- Type 1 occurs in post menopausal women due to an increase in osteoclast numbers due to a loss of oestrogen.
- Type 2 occurs in order men and women due to loss of osteoblast function due to loss of androgen and oestrogen.
Secondary Osteoporosis
- Results of drug therapy - corticosteroids
- Process affects bone remodelling
- Metabolic bone diseases
Risks factors for osteoporosis
- insufficient calcium intake
- Lack of exercise - immobilisation of bones lead to accelerated bone loss. Physical activity is needed to maintain bone mass.
- Cigarette smoking - in women linked to higher rates of osteoporosis.
Achondroplasia
- Inherited mutation in the FGF3 receptor gene
- FGF promotes collagen formation from cartilage - endochondral ossification affected
- Results in short stature but normal sized head and torso - long bones cant lengthen properly.
Osteoarthritis
- Mechanical failure of articular cartilage
- Narrowing of joint space
- Bones rub against one another
- Bone growths called osteophytes may occur
Rheumatiod arthritis
- Autoimmune disease
- inflammation of synovial membrane as it is attacked
- Thickening of joint capsule
- Subsequent damage to underlying bone and articular cartilage
- Both bone and cartilage disintegrate.
- Increase in number of macrophages, osteoclasts, fibroblasts, T cells, B cells, mast cells, dendritic cells and plasma cells.
Bone repair - haematoma
Blood vessels in bone and periosteum break
A mass of clotted blood forms
Bone cells at the edge of the fracture die.
Swelling and inflammation occur (granulocytes enter the cell)
Phagocytic cells and osteoclasts enter and begin to remove dead tissue
Macrophages will eventually remove the blood clot
Bone repair - fibrocartilaginous callus
New blood vessels infiltrate the fracture haematoma
A soft callus of granulation tissue develops
Fibroblasts produce collagen fibres. Others differentiate into chondroblasts that produce
hyaline cartilage
Osteoblasts from the periosteum and endosteum invade the fracture site and begin bone re
construction
Bone repair - bony callus
New trabeculae begin to form
The soft callus is converted to bony callus of cancellous bone
Endochondral ossification replaces the cartilage with cancellous bone and intramembranous
ossification replaces any spaces with bone
Bone repair - bone remodelling
Cancellous bone begins to be remodelled into compact bone in the cortical region
Material bulging from the outside and inwards is removed by osteoclasts
The final shape of the re-modelled area is the same as prior to the fracture.
Mast cells
inflammatory cells found in loose connective tissue near blood vessels. They release histamine - increases blood vessel wall permeability, heparin - anticoagulant and cytokines - attract immune cell.
Galactosaemia - enzymes
galactokinase,
UDP galactose 4 epimerase
galactose-1-P uridyl transferase.
Essential fructosuria
fructokinase missing causing fructose in urine with no clinical signals
Fructose intolerance
Aldolase B missing causing fructose 1 P to accumulate in the liver causing liver damage.
Hashimotos
Low T3 and T4 high TSH
Graves
Low TSH high T3 and T4
Haemoglobin structure
a quaternary structure with 4 subunits - 2 alpha 2 beta. Each subunit has a prosthetic haem group
Sickle cell anaemia structure
a mutation in the HBB gene which coverts the glutamate molecule to valine in the beta haemoglobin chain. Glutamate is hydrophilic and valine is hydrophobic. This mutation creates sticky pockets when Hb is in the T state. This causes polymerisation and sickling