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Osteogenesis imperfecta

Osteogenesis imperfecta






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    Osteogenesis imperfecta Osteogenesis imperfecta Presentation Transcript

    • OsteogenesisImperfecta
      By: Rabab Jafri
    • What Causes OI?
      The dominant mutations happen on the gene COL1A1 or COL1A2 gene
      Recessive mutation occur on (CRTAP) gene or the LEPRE1 gene
      Mutation on chromosome 17
      OI is caused by an abnormal production of collagen.
      Collagen structural protein material for bones, skin, cartilage, and ligaments.
    • Chromosome 17
    • Types of OI
      OI was thought to have been dominant autosomal, but research has found types of recessive OI as well.
    • Type I
      This is the most common form of OI
      It’s dominant autosomal
      Least severe
      Have normal or near-normal height
      Loose joints, weak muscles
      Whites of highs have blue, purple, or gray tint
      Some or no bone deformity
      Possible curved spine
      Possible hearing loss
      Normal collagen, less than
      normal amount
    • Type II
      Most severe
      Most people with this type die soon after birth
      Many times fatalities caused by deformed lungs
      Many fractures, severe bone deformity
      Small stature
      Whites of eyes tinted
      Collagen not formed properly
      Dominant autosomal
    • Type III
      Easily fractured bones, some occurring before birth, some healed before birth
      Short stature
      Whites of eyes tinted
      Loose joints and muscle development poor in limbs
      Curved spine
      Possible respiratory problems
      severe deformed bones
      Brittle teeth and hearing loss
      Collagen not formed properly
      Dominant Autosomal
    • Type IV
      Less severe than type III
      Fragile bones, fracture often
      Below average stature
      Eye whites have little or no tint
      Some bone deformity, not severe
      Tendency toward curved spine
      Ribs are barrel-shaped
      Could have brittle teeth and weak hearing
      Collagen not formed properly
      Dominant autosomal
    • Type V
      Similar to IV in symptoms and clinically
      Large calluses
      Forearm rotation restricted
      Whites of eyes normal
      Normal teeth
      Dominant pattern
      This type is caused by unidentified mutations
      Don’t have mutations in type I collagen genes
    • Type VI
      Similar to type IV in symptoms and clinically
      Activity of alkaline phosphatase is elevated
      Unknown whether it’s dominant or recessive, but most likely recessive
      By 2007, only 8 people had been diagnosed with this type of OI
    • Type VII
      Could be like type IV
      Could be like type II, but with
      normal eye whites
      Below average stature
      Short arm bone
      Short upper leg bone
      Coxavera is possible
      Recessive autosomal
      Caused by CRTAP gene
    • Type VIII
      could be like type II
      Could be like type III
      Normal whites of eyes
      Growth deficiency is very severe
      Deficiency of PH31
      Recessive autosomal
      Caused by LEPRE1 gene
    • Treatment
      There is no known cure for OI
      There are treatments to help symptoms of OI
      Making sure bones are as healthy as possible is important
      Surgical and dental procedures as well as physical therapy may be recommended
      “Rodding Surgery” which is done by putting metal rods next to long bones to strengthen them and prevent deformity
    • Impact on people with OI
      Since severity differs most live life normally, and others have problems
      Some have deformity of limbs and other parts of the body which could make mobility limited
      Some just have fragile bones
      Some have tinted eyes
      Some have hearing problems or are deaf
      Some don’t live long after their
      born (type II)
      Most of them live happy successful
      lives like anyone else
    • Research Outlook
      Many different types of research are being done although researchers seem like they’re looking for different treatments rather than cures right now
      The research includes looking at the affects of vibration therapy, Tariperatide (in adults), Bisphosphonates, and other treatments.
      There is hope for a cure, but not soon, right now treatments are the main focus
    • Myth Busters(AKA two extra interesting facts! :D)
      Myth: Babies with OI should be carried around with a pillow and discouraged from moving.
      Truth: It’s good to take precautions, but it makes it so the baby doesn’t discover movement naturally. Also immobility leads to loss in bone mass which would cause more problems
    • Myth Busters (continued)
      Myth: If a parent has OI, so will their child
      Truth: It could either be a dominant or recessive trait. If one parent has dominant OI, there is a 50% chance their child will get it. If it’s recessive, the child has a 25% chance they’ll be affected and a 50% chance of being a carrier
    • Recommended websites
    • Organizations
      OI Foundation
      Medical Research Charities
      Charity Navigator
      National Health Council
    • Work Cited
      OI :: OsteogenesisImperfecta :: A Rare Genetic Disorder :: Brittle Bone
      Disease. Web. 18 Apr. 2011.<http://www.easilybrokenbones.com/>.
      "OsteogenesisImperfecta - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. 14 Apr. 2011. Web. 18 Apr. 2011. <http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta>.
      "OsteogenesisImperfecta: MedlinePlus." National Library of Medicine - National Institutes of Health. 11 Jan. 2011. Web. 18 Apr. 2011. <http://www.nlm.nih.gov/medlineplus/osteogenesisimperfecta.html>.
      "Typed of OI." OsteogenesisImperfecta Foundation:. 2007. Web. 18 Apr. 2011. <http://www.oif.org/site/PageServer?pagename=AOI_Types>.