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• Osteogenesis Imperfecta, Logic and Genetics

• Symptoms of Osteogenesis Imperfecta Compared to Symptoms of Nutritional Deficiencies

Osteogenesis Imperfecta, Logic and Genetics

Many researchers believe that osteogenesis imperfecta is an incurable genetic disorder caused entirely by defective collagen genes.  But is it? Many of the features of OI cannot be logically explained by defective collagen genes alone.

If you consider nutrition as a factor in osteogenesis imperfecta, then there are logical explanations for many features of the disorder. If osteogenesis imperfecta were really caused solely by a defective collagen gene, then why would a collagen abnormality cause short stature, enlarged foreheads, hyaluronic acid abnormalities, flat nasal bridges, hypercalciuria (excess calcium in the urine) and heavy menstrual bleeding, all of which are common features of osteogenesis imperfecta?  A defective collagen gene simply does not provide a logical explanation for many of the features we know about the disorder. 

One of the tests for osteogenesis imperfecta is to check for collagen abnormalities.  It is believed that this is somehow a valid indication of whether or not people have this genetic disorder. I question whether this test makes any sense from a logic standpoint. In an animal study, collagen abnormalities were found as a result of a zinc deficiency.  How would anyone know from testing for abnormal collagen what the root cause of the abnormal collagen would be?

In other animal studies, zinc deficiencies have also been found to cause rachitic skeletal features (scoliosis, pectus excavatum, bowed limbs, etc.). In a study of people with chest deformities in the general population (not specifically people with osteogenesis imperfecta) all of the people with chest deformities were found to have deficiencies of zinc in their ribs and abnormalities of collagen. So are collagen abnormalities really specific to osteogenesis imperfecta, or is there a more basic common denominator involved, and collagen abnormalities are simply a common finding in people who have chest deformities?

In other human studies, zinc deficiencies have been linked to both short stature and dwarfism. So this means the overlapping features between zinc deficiencies and osteogenesis imperfecta include, at minimum, abnormal collagen, short stature, dwarfism and rachitic skeletal features (pectus deformities, scoliosis (sideways spinal curvature), bowed limbs, enlarged foreheads etc.). High zinc requirements may be inherited, as can malabsorption disorders like Celiac disease which can cause zinc deficiencies.  Even in cases where osteogenesis imperfecta ran in families, how would anyone know that the root cause of the OI symptoms wasn't a high zinc requirement or an inherited malabsorption condition like Celiac disease that ran in the family, rather than an incurable genetic disorder? It seems to me that so many overlaps between zinc deficiencies and osteogenesis imperfecta are unlikely to be attributed to random chance.

 

I have received dozens of letters from desperate parents telling me that a child has some little-known disease which I have failed to mention. Almost invariably no research has been done concerning the effect of nutrition on that particular illness...To say that a disease is incurable does not mean that it cannot be cured but only that at present a cure is unknown. Adelle Davis, writing in Let's Have Healthy Children

   
Besides the collagen test, there is also a DNA test that is used to determine if people have osteogenesis imperfecta.  I question whether this DNA mutation has ever really been proven to cause the disorder.  Association is simply not enough to scientifically prove singular cause and effect. Many people with clinically diagnosable osteogenesis imperfecta have not even been found to have the genetic collagen mutation said to cause the disorder. So what is causing OI in them?  How can it be proven the mutation causes the disorder if it cannot be proven that everyone with the disorder even has the mutation?   I don't see that it can.  Even among people with the mutation, symptoms vary greatly.  What would cause this variance?  Again, environmental factors, such as diet, seem like obvious areas to consider. It is pretty hard to say that anyone really knows what causes osteogenesis imperfecta, when there are so many unanswered questions.    

Twenty -five percent of all cases of osteogenesis imperfecta are sporadic -- there is no family history of the disorder. In some cases, symptoms of OI will come and go throughout a person's life.  Wouldn't this be an indication that the disorder is influenced by some environmental triggers, rather than just genes alone?   

Osteogenesis imperfecta is currently treated by a wide range of bone building drugs, which are environmental factors.  If prescription drugs can alter the course of OI, then isn't is possible that other environmental factors, like diet, could alter the course of OI, too?  If prescription drugs can help OI, are there some prescription drugs that may have contributed to osteogenesis imperfecta in the first place, especially in the cases that suddenly popped up when a child reached a certain age? 

I've read that OI can't be cured through diet because it is an inherited, genetic disorder. Yet, many disorders, like Down syndrome and cystic fibrosis, that were once thought to be solely genetic, are now being linked to nutritional deficits, too. To date, there has been very little research on the best diet for people with osteogenesis imperfecta. As such, I find it hard to understand how it could be predicted in advance that nutrition doesn't play a role in the disorder. It simply isn't scientifically valid to predict in advance the results of research that has has never taken place. (See my sections on Connective Tissue Disorders: The Overlaps and Links to Nutrition and Genetic Disorders: The Links to Diet for more on this topic.)

There are at least 24 nutrients that have been identified to date as being important for bone health. Without research in this area, how do we know that people with osteogenesis imperfecta simply don't have high requirements for one or more of these nutrients, or have malabsorption problems that prevent some of these nutrients from being absorbed?

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