• Join over 1.2 million students every month
  • Accelerate your learning by 29%
  • Unlimited access from just £6.99 per month

This essay will outline the principal features of the musculoskeletal system and look into a rare and debilitating disorder: fibrodysplasia ossificans progressiva (FOP). The devastating effects of this condition will be explored as will treatment options

Extracts from this document...


Musculoskeletal System and Disorders This essay will outline the principal features of the musculoskeletal system and look into a rare and debilitating disorder: fibrodysplasia ossificans progressiva (FOP). The devastating effects of this condition will be explored as will treatment options. The musculoskeletal system, conceded by Lipman (2005), is made up of muscles and specialised connective tissues including: bone, ligaments, cartilage and tendons. Bones provide the foundation for the rest of the body: a point of attachment for muscles facilitating movement, stability and strength through rigidity, protection of fragile organs, storage of minerals like calcium (key for muscle contraction), and blood synthesis by haemopoiesis, in the red bone marrow (Waugh and Grant, 2010). Osseous tissue is 'living'; writes Hamerman (1998), it is continuously reconstructing and replacing itself. There are several types of bone, shaped in concordance with their function, for example: the flat bones of the cranium create a protective shell around the brain (Walker, 2010). Bone structure also varies; compact (cortical) bone is typically found where strength and durability is needed, like the shaft (diaphysis) ...read more.


FOP results from a mutation of the ACVR1 gene: a BMP (bone morphogenic protein - bone synthesis) receptor; in FOP cases not only has elevated levels of BMP been found, stimulating excess bone growth, but also reduced levels of antagonistic proteins such as noggin (Shore, Snow and Kaplan, 2006). This negative cycle causes the rapid onset of symptoms, with ectopic bone growth visible from infancy (Schwartz, 2011). Ectopic bone growth spreads through the body over time, fusing joints and reducing the patient's range of motion until immobility is reached, typically in their thirties (Fibrodysplasia Ossificans Progressiva FOP, 2006). The genetic mutation is not essentially fatal; however complications can be, like restrictive lung disease or malnutrition caused by mandibular immobilisation (Fibrodysplasia ossificans progressiva, 2011). Sources vary regarding the number of known cases; Schwartz (2011) suggests 200 cases worldwide, while Shore, Snow and Kaplan (2006) estimate 600 with as many as 2,500 encompassing undiagnosed cases. Shore and Kaplan are directly involved in the leading FOP research, hence more reliable. ...read more.


Bone marrow transplants aiming to replace marrow stem cells are being explored, but probably not beneficial due to the invasiveness of the procedure. Another experimental treatment utilizes retinoic acid receptor agonists, scientists believe it breaks-down the cartilaginous framework before bone growth occurs though no conclusive evidence from clinical trials has arisen (Kaplan, Shore and Pignolo, 2011). Analgesics and muscle relaxants remain popular with physicians for the management of acute and chronic pain despite concerns related to long-term use. Current research by Kaplan et al and Takahashi et al, explored by Lowery and Rosen (2011), investigates the application of allele-specific RNA interference (ASP-RNAi) to simultaneously selectively repress and retain normal expression of ACVR1, bringing BMP levels within a normal range thus controlling bone growth; however this is still experimental. The apparent focus continues to be the search for effective gene therapy to prevent, stop or counter the effects of HO. Considering most other treatments either only camouflage or postpone symptoms temporarily, gene therapy appears the most convincing route. It is early days regarding FOP research and understanding; combined with technological advances it can be surmised that a cure is in sight. ?? ?? ?? ?? Elizabeth Chavez Human Anatomy and Physiology Level 3 03/01/12 1 ...read more.

The above preview is unformatted text

This student written piece of work is one of many that can be found in our AS and A Level Genetics, Evolution & Biodiversity section.

Found what you're looking for?

  • Start learning 29% faster today
  • 150,000+ documents available
  • Just £6.99 a month

Not the one? Search for your essay title...
  • Join over 1.2 million students every month
  • Accelerate your learning by 29%
  • Unlimited access from just £6.99 per month

See related essaysSee related essays

Related AS and A Level Genetics, Evolution & Biodiversity essays

  1. Marked by a teacher

    An Investigation into the Mitotic Nuclear Division of Allium Sativum Root Tip Cells, and ...

    5 star(s)

    Appendix: Background Knowledge/Research The Cell Cycle & Mitotic Nuclear Division: Abstract Mitosis is the process of cell division in which eukaryotic cells undergo nuclear division, producing two genetically identical daughter cells. Biologically, mitosis has great significance as a means for the process of nuclear division to occur during cellular growth, repair and asexual reproduction.

  2. Peer reviewed

    Issue report: 'Smart' Drugs

    3 star(s)

    This increase in blood flow then leads to an increase in the of the subject as the brain can function at a higher metabolite rate. This increase could be very useful in a number of places for example it would have usage for exam students as it would help them

  1. Investigate how the height to width ratio of Limpets varies with distance from sea

    * The width of the Limpet was recorded using a calliper, the tips of which were adjusted to fit the width of the Limpet. The device was then removed and the width was recorded using the scale on the calliper which is accurate to 0.5mm.

  2. Biology Coursework: Does Acupuncture relieve pain?

    Patients in the control/placebo group improved by an average of 8.37 points after receiving treatment. Scores from the acupuncture group, meanwhile, improved an average of more than 19.2 points after treatment. Seventeen patients in the acupuncture group (68%) gave the treatment a positive evaluation after the final treatment as opposed to only 14 patients (52%)

  1. The Biology of Autistic Spectrum Disorder and the Social Implications

    Finding it hard to understand an angry or happy tone in another person's voice is not uncommon. Autistic children may also make up their own words or phrases, which can make it more difficult for them to be understood, and they can also find it difficult to understand easy commands such as 'Go and clean your teeth!'

  2. Can relapse in acute lymphoblastic leukaemia (ALL) be prevented?

    > DNA based tests: This aims to detect the Leukemic specific DNA sequence. The polymerase chain reaction is a technique of amplifying single or a few sections of a particular DNA section, a highly sensitive technique. Specific markers are used for DNA based testing, these are chromosomal translocation for example t(14;18)

  1. Investigation as to whether the aspect of a wall affects the growth of lichens

    Some can even live for hundreds of years before they die. The process by which a fungus and alga join to form the lichen is called lichenization. When a lichen is separated in a laboratory into its fungal and algal components and each of these is cultured separately they grow normally as they would if originally found isolated.

  2. A study into the effectiveness of Hydroxycarbamide (Hydroxyurea) in treating the complications caused by ...

    Each type of haemoglobin will form a unique 'pattern' so that HbS can be identified and a diagnosis of sickle-cell disease made. 960 Words In unaffected individuals HbS is not present. In those who have sickle cell trait, 20% to 40% of the haemoglobin is HbS.

  • Over 160,000 pieces
    of student written work
  • Annotated by
    experienced teachers
  • Ideas and feedback to
    improve your own work