Structural Biology: RBC just a tad important to life and function Several different types of abnormal RBC Classic

case is Sickle cell Anaemia Occurrence: Important disease if you belong to certain racial groups 1 in 500 african americans suffer 1 in 1000 Hispanic Americans suffer 1 in 12 African americans carry the gene SCA gene is codominant Big problem is in West Africa SCA is selected for by giving a degree of immunity against malaria. Malaria are incapable of infecting SCA That is why the disease is so rife there Co-evolution with a parasitic disease Symptoms: Anaemia (fatigue, pale skin, jaundice caused by breakdown of RBC, shortness of breath) Pain capillaries get blocked by SCA RBC Treatments: Pain medication Hydroxyurea Prevention of infection Blood transfusions Bone marrow transplant only real treatment the rest just treat the symptoms rBC contain lots of proteins so cannot be seen under light microscope SCA cells have long fibrous proteins which is the problem. This is caused by haemoglobin defect Protein structures: Alpha and Beta subunits are nothing to do with secondary structure (I knew it!) HbA HbB and Myoglobin conserve specific amino acid indicating some vital for structure and function Proteins don't have DNA double helixes Alpha chain caused by H bonds between every fourth amino acid 70% of Hb tertiary structure is alpha helixes At the centre of Hb is an iron group (prosthetic) which allows the protein to bind to oxygen protoporhyrin Ribbon diagram lets us see structure but the contour map shows us what it looks like in real space Alpha helices are assigned a letter from A H in Hb In SCA there is a mutation of the A alpha helix at position six from Glutamate to Valine EDE codon to EDV. Change from a hydrophilic amino acid to a hrydrophobic amino acid. The valine is on the surface of the haemglobin and would rather react with another valine than water. This causes a sticky patch on this Hb, we call it Hb S. As a result these RBC join up where they shouldn't and form fibres when they should be simply discrete. These for fibrils which we can see under the electron microscope.

Genomics: Anatomy: Firbous: Suture Syndesmosis Clartiliginous primary synchondrosis non movable joint 2 symphysis Synovial Plane Hinge Pivot Condylar Sllipsoid Ball Socket Saddle (sellar) Synovial joints synovial cavity filled with synovial fluid enclosed in a firbous capsule do not confuse articular surface and articular cartilage little bit of fluid between cartilage enclosed fluid is at margin to prevent rubbing of cartilage. Bone 1.Type 2.Bones Articular surfaces hyaline articular surface Ligamentous firbous capsule (can be considered special kind of ligament) synovial membrane synovial fluid ligaments Special structures Menisci/ discs intra capsular tendon bursae pads of fat nerve supply blood supply

Muscle movements muscles prcing each stability complex joint= joint partitioned into more than one cavity compoud they type of joint is defined by the movements allowed which are in turn defined by the shape of the articular surfaces. We must consider the shape and size of the surfaces. 3D Types of synovial joints: plane flat just gliding movements allowed, facet joints. Hinge paired movements about 1 axis, uni-axial Condlar paired movements about 2 axes, bi axial (MP joints of digits) Ball and socket paired movements about 3 axes, multi-axial (eg. Shoulder joint) In an X-ray the cartilage don't show up but the gaps do. Very small, just enough for cartilage and synovial fluid. Non articular surface in articular surface may be due to ligaments. When look at bones look at both where the articular surface and also where the non-articular surface is. Can have blood vessels run under ligaments to supply the joint. Cartilage gets nutrition from the synovial fluid and also the bone underlying the cartilage. Arthritis: Ostephytes forms and cartilage wears out in arthritis Ostephytes can also squash things like nerves. Trauma to joint can cause growth there and can cause degenerative arthritis and also locking of joints. Capsule attaches to the articular margin except when it doesn't. Proprioception is the receiving of information of where things are and if they are stretching etc. If you lose it you may stretch ligaments unaware. Capsular migration: migrates to margin but will not reach there as you will always need a bit redundant just in case. Anything that isn't important is covered in synovial membrane Synovial fluid is a non-newtonian fluid lubrication is inverse to stress. Lubrication is made of hyadruonic acid Synovial effusion is the increased secretion of the membrane into the capsule. Swells up, is a bit war Haemothrosis accuculation of blood in the cavity. Typically due to severe trauma esp. if the capsule is torn except maybe haemophiliac. Tissue resists the blood accumulation produces swelling of joint that is painful and very warm. Septic arthirits due to infection of joints. Loose body causes locking of joints and to do with effusion intracapsular are thickenings of the capsule but extracapsular are not.

Ligaments help prevent locking of capsule White: Collage resist stretching once stretched remain elongated found in joints where moevement is restricted Yellow: Elastin Microscopic partial complete if a little fragemnt of bone is removed with ligament then it is called an avulsion. Does not usually happen our ankles are very mobile so we can stand on unstable ground. Thus they are more likely to rupture. No stability If it is completely ruptured then there is a tearing of nerves and no pain. No pain can be good or very bad. Loss of proprioception laxity. Can cause more mobility and combined can cause more injuries