Exception to the thumb rule

By definition, a genetic disorder is one caused due to defects arising in genes. If you have inherited the defective gene or genes, then you are bound to be affected by the disorder.

A common example is Duchenne Muscular Dystrophy, caused in humans by a defective copy of the Dystrophin gene (DMD) that encodes the dystrohin protein. DMD gene is located on the X chromosome. Since, females in humans have two X chromosomes, one defective copy of the X chromosome makes the person a carrier for the disorder. Muscular Dystrophy¬†usually does not affect females, unless she is the progeny of an affected father and carrier mother.¬†However, males, who inherit only one X chromosome from their mother, have a 50% chance of getting the defective copy of the gene from a carrier mother and therefore are at 50% risk of being affected by muscular dystrophy. That’s the thumb rule.

Meet Ringo, a male Golden Retriever, the exception!

Golden Retrievers are also susceptible to muscular dystrophy, called the Golden Retriever Muscular Dystrophy (GRMD), and are used as a model to further understand the disorder. Ringo’s mum, Beth was a diagnosed carrier and when Ringo was born, his DNA was tested to know, if he would be affected. The test confirmed that Ringo was affected and so were two of his brothers from the same litter.

One of Ringo’s affected sibling succumbed to the disorder at an early age while the other shows severe symptoms of the disease. Ringo, however, does not show any symptoms of the disease, even though, he does not produce any amount of the dystrophin protein and continues to lead a perfectly normal life.

Ringo’s litter with other carrier females have puppies affected by the disorder. Suflair, is a male dog in Ringo’s litter who has repeated history. When tested, Suflair too has same genetic defect as seen in other Golden Retrievers who have Muscular Dystrophy. Yet, Suflair, does not exhibit symptoms of the disorder. Such instances, humble scientists every time they occur. There is definitely something that has allowed these exceptional dogs to lead a normal life although they have genetic defects. Attempts to discover that ‘something’ have not yielded results. However, science is making progress in getting to know exactly what is our DNA capable of and how does it exactly function.

Whether, we will know in our life times, why Ringo and Suflair are exceptions, only time can tell!

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