Interview: Osteogenesis Imperfecta

1. Why did you choose to become a doctor in the field you chose?

My medical student Docent group was led by the chairman of the department of medicine.

2. Do you have any accounts of patients with osteogenesis imperfecta? Any other interesting stories?

My first exposure to OI was in 1984 as a medical student doing an internship in Columbia Missouri with a family practitioner. This particular patient that I met was extremely short and barrel chested and had blue sclerae due to collagen deficiency. He looked deformed to me. My Preceptor, Dr. Moranville, was the first person to expose me to this condition. It was at that time that I was first taught about OI – and his clinical presentation has stuck with me throughout the years, making it easier to remember the disorder.

3. Why should a doctor or researcher studying osteogenesis imperfecta know about evolution?

I don’t know the correlation here.

4. How important is the search for a cure?

As with any disease that affects both quality and quantity of life, it is important to attempt to understand the disease and work toward a cure to reduce the incidence of OI and save thousands of individuals from increased morbidity and mortality.

5. How might research in osteogenesis impefecta benefit research of other genetic diseases?

Research for OI is employing stem cell research and gene therapy which can be applied to other health conditions. Also the use of rehabilitation and bone healing/treatments could help us to understand how to better treat bone fractures in otherwise healthy individuals.

6. What misconceptions exist about osteogenesis imperfecta?

That these patients may be some type of dwarf given their short stature. Also, some people assume that there is some type of mental retardation associated with these individuals as well which is not the case.

7. How important is it for physicians to know about gene mutations?

I am not sure that every physician needs to understand gene mutations to be able to be a good primary care specialist. However, physicians should be aware of the condition and be able to recognize it and offer appropriate referrals for treatment/management.

8. What do you think about using grid computing in this search?

I only know a little about grid computing. I understand the concept and have participated in them a few years ago with such web portals such as Kazaa and Napster for music searching/downloading. It makes sense to me that if you were to use the power of many CPU processors to genetic information etcetera, then the power of these computers could speed up the process immensely. I would support the use of grid computing here and in any complex medical problem that requires massive computer processing power to facilitate the work and increase the rate of success and finding the answer/cure etc.

Osteogenesis Imperfecta Symptoms

These are the symptoms of OI.

-Brittle bones
-Low muscle mass
-Newborn with multiple fractures (severe case of OI)
-Joint being loose
-Ligament being loose
-Blue-gray sclera
-Thin skin
-Growth defiencies
-Fragile teeth
-Transparent teeth

People affects about 6 to 7 per 100,000 worldwide. Types I and IV are the most common form of OI which affects about 4 to 5 of 100,000 people.

Osteogenesis Imperfecta Cause

There are various symptoms in Osteogenesis Imperfecta because there are eight recognized forms of Osteogenesis Imperfecta which are designated from I to VIII. Type I is a mild form of OI whereas Type II is a severe form. Furthermore, Type III to VIII is in between these two extremes and the known cause for OI is simply genetics. Geneticists have found that the cause of OI comes from mutations occurring to genes. In fact, they have pinpointed the mutations to the genes: COL1A1, COL1A2, CRTAP, and LEPRE1.

What do these genes do? COL1A1 (Collagen, Type I, Alpha I) and COL1A2 (Type I, Alpha II) are responsible for making Type I Collagen which is necessary for supporting bones which contributes to ninety percent of OI. CRTAP (Cartilage Associated Protein) plays an important role for bone development; therefore, if there were a mutation to the gene that does this, then it is likely that bone development does not correctly form. LEPRE1 is responsible for making an enzyme called Leprecan or Proyl-3 Hydroxylase 1. The purpose of this enzyme is modifies the amino building block in collagen for normal folding and assembly of collagen. If the mutations were not found on these four genes, then the cause of OI is unknown. In fact, OI Type V and Type VI are known cases of this. Ultimately, these genes cause the bones to be brittle and more susceptible to bone fractures.

Osteogenesis Imperfecta

To understand osteogenesis imperfecta, understanding the name of the disease is pertinent information because it helps give an idea of what the disease is.
-Osteo means bones
-Genesis means the creation
-Imperfecta
Therefore, osteogenesis imperfecta is a disease that bones are not created correctly.

As you can see the image to the right, the arm is very curved. If one held themself up, then the arm would snap much like bending a tree limb until it cannot hold the weight any more and break.

The normal bone structure is shown below whereas a person with osteogenesis imperfecta is shown to the right.



NOTE: We do not own these images. By clicking the image, it will go to the owner of the image.