Proteins in Health and Disease Flashcards
The quaternary level of protein structure is…
Multiple sub-units
Myoglobin is bound to a metalloprotein co-factor known as a…
Haem group
Which animals have high levels of myoglobin and why?
Diving mammals, such as whales 🐋
Sickel Cell Anaemia involves the mutation of a single amino acid, from E (Glutamic acid) to…
V (Valine)
Many diseases are caused by the ? of proteins
Misfolding
🧠 How can prion proteins spread disease?
Hydrogen bonds on exposed edges of beta sheets can stick together
Diseases can also be caused by missing proteins. Examples include (6):
- Cystic Fibrosis
- Muscular Dystrophy
- Phenylketonuria
- Haemophilia
- Cancer
- Type 1 Diabetes
𝝙 signifies…
the absence (deletion -> D -> Delta 𝝙) of an amino acid, e.g. 𝝙508 in CFTR protein results in Cystic Fibrosis phenotype
The mutated proteins in Cystic fibrosis are actually still functional. However they are prevented from reaching the cell membrane by…
Quality control mechanisms within the cell, which recognise the defect (𝝙508)
An example of protein engineering, ‘Insulin aspart’ replaces proline (P) with aspartic acid (D). This is more effective than injecting unmodified insulin because…
It forms a less stable hexamer, which dissociates more readily, allowing it to bind to insulin receptors more effectively
Fibrous proteins are responsible for…
Cell shape
Although it is normally highly flexible, the alpha-keratin found in hooves and nails is harder. Why?
There are more disulphide bridges
Most diseases can be traced to…
Protein malfunction
Single amino acid substitutions or deletions can cause disease and also…
Drive evolution
