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“Mutations are the cause of almost every disease”. That is what a researcher told me when I asked her why we are very interested in studying mutations of the human DNA. Is that possible? Will the future medicine mainly depend on molecular genetics? Will each of us have his very specific genetic fingerprint included in his profile at his doctor? All those questions suddenly hit my thoughts when she continued to explain the huge impact of this new science on medicine.

You may say that if it’s mutation, we can simply “fix” it through gene therapy but still gene therapy is not approved by FDA and there are high risks and also considerable percentage of failure in this type of therapy. Well, I can tell you that this is not the only reason driving us to study gene mutations or mutations in general.

There were two old misconceptions (and may be still present). The first was that all diseases are only caused by environmental factors while the second was that congenital genetic diseases must be shown on parents. Studying mutations on DNA level proved that those are not necessarily true. Many widespread well-known diseases such as hypertension and also diabetes were recently known that they are of genetic origin. On the other hand, some cases of congenital mental retardation causes such as phenylketonuria (PKU) found in the newborn and not clearly shown in both parents.

There are also many good reasons why the interest in studying mutations raised  lately. I can tell that one of them was the Human Genome Project. Since we  can know most of the genes and we can easily get the sequence of any DNA sample, why don’t we study the “changes”? I think that’s the base of every science. We figure out the “normal” and then look up for the “abnormal”. Or, how can we be so sure about the “normal” unless we study the “abnormal”? That makes real sense to me.

She kept opening boxes, some I know and some I really didn’t know about. She also said that DNA analysis and sequencing is very important before marriage. Susceptibility of the expected child to some diseases (on the genetic level) may be also verified. Although it seems more of genetics but it’s true. Some mutations are inherited just following the Mendelian law. She gave me example; say that expected mother has mutation “deletion” in one of the genes while the expected father has mutation “insertion” in the same gene, the expected child may not be affected. On the other side, if both have deletion or insertion, there will be another pathway for this marriage.

On the prenatal level, we can actually save lives and avoid many complicated consequences that may happen. A sample from amniotic fluid or the pregnant mother blood (better to be the amniotic fluid), we can study how our fetus’s DNA is. If it is impossible to survive or it shall have tragedy in its life, legal abortion is carried out. If it is a milder case and the baby can survive for long period, we can maximize its opportunity as in the case of previously mentioned PKU. We know that certain types of food elements will enhance mental retardation; we can totally avoid them and guarantee a healthier happier life for both child and parents.

            She emphasized on one thing I didn’t, previously, take care of; the diagnosis. She explained by saying that in many cases, especially cancer, we need to take a biopsy to send it to the pathology lab to say whether it’s benign or malignant. In prostate cancer for example, it’s more close to a surgery and we may be led to prostatectomy which is very painful whether physically or psychologically. Mutation analysis may save all that and provide us with non invasive method for diagnosis. ( I have to clarify that in some diseases, biopsy is better and more specific than blood sample for example,  congenital heart diseases)

We all know that many diseases are multi-factorial which means that one thing happened leads to this and this leads to that and the same that causes another that..etc. So, it might be difficult tracking down the “single main factor” which was the first troublemaker. DNA can tell us about it. By detection of mutations, it may clarify what is the real reason of this dilemma. She opened a totally new box to me; unresponsiveness to the drug; the usual therapy not gene or any correction. I had a very small background about pharmacogenomics that sometimes we need to “tailor” the dose for every patient due to the fact that we are not simply the same. But, she gave me an additional interpretation to that shocking fact. Nephrotic syndrome is a disease caused by abnormality in the kidney mainly the glomeruli in the nephron; the functional unit of the kidney. It leads to many endless complications such as oedema and hypertension. One of the ways to treat it is steroids. Although it is a magical drug but it stabs us in the back. We can take the risk and treat the patient with steroids but it gives no effect. That’s due to mutation variation between different patients.

Going back to cancer, if one of the family members previously had cancer, it might be, with considerable percentage that it’ll be inherited to another family member. This also ensures the importance of studying our genes and how they “change”.

Not all mutations are that terrible. “If it weren’t for some mutations, we wouldn’t have survived”. One of my very respectful doctors told us that. I simply wouldn’t be writing you this post and you wouldn’t be reading it. There is no absolute. Everything has its good and bad side. The clever is who use the good and take care of the bad.



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