A mutation causes changes in the DNA (deoxyribonucleic acid) sequence, which can be due to environmental factors called mutagens. They are radiation, chemicals, and infectious agents. When DNA is mutated, nucleotide becomes arranged in the wrong order where coded instructions get changed, and faulty proteins are formed. The body cannot function properly. It can be inherited from one or both parents.
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Query: Hello doctor, For three years, my RBC has been slightly elevated (~4.9). My DNA results show a homozygous GG genotype for SNP rs12340895 of the JAK2 gene indicating greatly increased odds of developing JAK2 V617F-positive MPN. I have no symptoms and I am in good health. Should I see a hematologi... Read Full »
Answer: Hi, Welcome to icliniq.com. Based on your query, my opinion is as follows: Numerous DNA mutations are always present and it is difficult to monitor for any specific malignancy. However, speaking specifically, the mutation you have described can be seen in 50% of the normal population, which is ve... Read Full »
Query: Hi doctor, I have bilateral congenital cataracts with no other issues. My parents do not have them. Please let know the percentage of passing this to my kid? I knew that is autosomal dominant. But, what is the possibility of this to become familial? Is my kid 50 % prone to it? Read Full »
Answer: Hello, Welcome to icliniq.com. It depends upon two factors. First we have to confirm whether it is genetic. There are many different reasons for having bilateral congenital cataracts. The second is the mutation itself; if one allele is affected and your partner does not carry the gene then the chanc... Read Full »
Query: Hello doctor, Do you know what kind of mitochondrial poison can stay in the body for more than five years? I have a patient with symptoms which looks like a mild mitochondrial poisoning for the past five years. There are only few mitochondrial poisons. So, do you think any one of them can stay in t... Read Full »
Answer: Hi, Welcome to icliniq.com. Usually the mitochondrial toxicity (poisoning) occurs due to some natural toxins from animals and plants or synthetic. In current days, the mitochondrial toxicity is majorly due to synthetic chemicals as human destroyed many toxic plants and animals in the living place. ... Read Full »
Query: Hello doctor, If both the testes experience a reduction in blood supply (and thus oxygen and hormones), in the long run will it increase the risk of more spontaneous mutation present in sperms as lesser blood supply will affect the DNA replication and repairing ability of spermatogonial cells? Read Full »
Answer: Hello, Welcome to icliniq.com. I have gone through your query. What you have mentioned is theoretically true, however reduction in blood supply and hormones will lead to atrophy of the testis and a decrease/ absence in sperm production eventually. Also right now it is clinically impossible to as... Read Full »
Query: Hello doctor, Can a slight reduction in blood supply and poor blood circulation in both testes increase the risk of de novo single gene mutation present in a normal motile sperm? Will fertilization of this type of sperm result in a child with de novo single gene disorder with the sole reason being ... Read Full »
Answer: Hello, Welcome to icliniq.com. What you have mentioned is correct. However, since the paternal DNA (deoxyribonucleic acid) is normal, the mutation will be affecting a single sperm or those derived from a single germ cell in the case of single gene mutations. It is impossible to know whether the ... Read Full »
Query: Hello doctor, I am 29 years old and I am worried about bone cancer. I have had two CT scans for kidney stones around my abdomen area as a total of 7 msv. I also had a CT scan of my head. I read that the radiation can cause bone cancer. Should I be worried? Is it a low dose and not to worry? There i... Read Full »
Answer: Hello, Welcome to icliniq.com. It is true that radiation may cause cancer but that is one person among one million people. Also, there is no family history of cancer, so not to worry. Eat antioxidants fruits, exercise daily, and make your mind positive. For more information consult a pulmonolog... Read Full »
Query: Hi doctor, During my previous pregnancy last year, due to a Down syndrome issue, the baby's brain was not formed properly. This was detected at the end of the fourth month. At that time, I did not go for a TORCH test. Now, I am pregnant again. At the third week check up, he did a TORCH test. IgG an... Read Full »
Answer: Hello, Welcome to icliniq.com. I have gone through your query and understand the concerns. You having a history, of the brain of the baby not forming properly due to Down Syndrome in the last pregnancy, is not an indication for getting a TORCH (toxoplasmosis, rubella cytomegalovirus, herpes simplex... Read Full »