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Doctor insights on: Genome

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Why are human endogenous retroviruses (herv's) "activated" in some people, but not in others, when exposed to exogenous viruses? Genetic mutations?

Why are human endogenous retroviruses (herv's) "activated" in some people, but not in others, when exposed to exogenous viruses?  Genetic mutations?

HERV's evolutionary: Endogenous retroviruses have made us evolve. They make up 8% of our dna genome. These aren't of the same class as HIV (lentivirus) or htlv (deltaretrovirus). Few are active & only w/growth & infection. Co-infection w/hiv can turn on herv replication wh/allows our immune system ability recognize & kill HIV viruses w/herv presenting-hiv infected cells leading to new therapies for HIV (vaccines!). ...Read more

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What is some basic knowledge about condyloma acuminata (hpv virus)?

What is some basic knowledge about condyloma acuminata (hpv virus)?

Viral: This is a very common type of infection that most of us have been exposed to at some point. It's estimated that up to 92% of sexually active adults have some type of hpv infection (there are over 100 subtypes). Condyloma (warts) are caused by hpv type 6 & 11. Transmission is by touch & is basically the same as a wart on any other part of the body. ...Read more

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How does a mutation in the fbn1 gene affect the structure and function in fibrillin-1 protein?

Major substrate: Fibrillin is a major building block of microfibrils which constitute part of the important substrate for the connective tissue so developing a defective pattern. I guess you might be asking about marfans syndrome which is the ailment associated with the fbn1 gene mutation. This is the background problem to the cardiac, ocular and musculoskeletal issues that caracterize marfans. ...Read more

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Nk cells have enzymes that attack foreign, virus infected, or cancerous cells? Is that how they work?

Nk cells have enzymes that attack foreign, virus infected, or cancerous cells? Is that how they work?

NK cells: Yes, natural killer cells are part of the innate immune system. Unlike other immune cells, they do not have to have prior exposure to an invader in order to attack it. They do release enzymes which essentially poke holes into the cell they are trying to destroy. They release their enzyimes into these holes. The enzymes travel to the center of the cell and cause it to explode, known as apoptosis. ...Read more

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Results: Hep C quant. : 2,802,680 HCV log10: 6.448. Reflex to genotype was unable to determine genotype even though there was sufficient HCV RNA?

Results: Hep C quant. : 2,802,680 
HCV log10: 6.448. Reflex to genotype was unable to determine genotype even though there was sufficient HCV RNA?

Hepatitis C virus: Sometimes it's not possible to determine the genotype of this virus, which thus makes the expected response to treatment more uncertain. This is a 'slippery virus' -there are 11 major genotypes (designated 1-11), and many subtypes (a, b, c, etc.) A hepatologist (GI subspecialist) or an ID doctor who works with Hep C patients can help you. You'll need an established relationship for treatment... ...Read more

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Does pancreatic/biliary duct, stomach, colon cancer or leukemia skip a generation? Please, need some answers?

Does pancreatic/biliary duct, stomach, colon cancer or leukemia skip a generation? Please, need some answers?

Unrelated: These tumors are independent and unrelated to a genetic passing down of a familial situation such as with the BRACA gene in breast cancer. Genetic association occurs in about 5% of cases and 95% of cancers are due to contact with carcinogens or viruses. It has now been shown that intrinsic gene factors can be passed down and skip a generation such as with the partial sequence of the MMTV virus. ...Read more

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Is this trisomy 22 caused from one of the parents havinga genetic disorder?

Is this trisomy 22 caused from one of the parents havinga genetic disorder?

22 or 21 whatever ?: Trisomy's are causes by an abnormality at conception. The egg & sperm are both expected to bring one chromosome from each of the parents 23 pairs.If an extra comes along in the egg or sperm (usually egg), the joining produces 22 pairs & one triplet or trisomy.Chromosomes carry the genes. Too many genes confuse the cell. Some lump this with gene disorders because gene docs follow the patients ...Read more

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Will new zoonotic diseases that jump from animal to human cause the extinction of all mankind in the future?

Will new zoonotic diseases that jump from animal to human cause the extinction of all mankind in the future?

Plague: Anything is possible. You're question may be more entertainingly answered by Michael Crichton, who is a medical doctor, by the way. ...Read more

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05/05/2016 Siemens Advia Centaur hep C antibody result positive.08/10/2016 Abbott Architect (cmia) hep C antibody result negative.Who is telling truth?

05/05/2016 Siemens Advia Centaur hep C antibody result positive.08/10/2016 Abbott Architect (cmia) hep C antibody result negative.Who is telling truth?

It's not really: a question of truth telling. No test is perfect: the proteins and reactants used in each test will respond to an individual's blood/biologic material, potentially, in a different way. Falsely positive or falsely negative results are not very unusual. You need to decide on a confirmatory strategy with your doctor. Retesting is necessary and an expert can help you weigh the evidence to decide result ...Read more

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Is bone marrow transplantation is curative for chronic myeloid leukemia caused by (Philadelphia chromosome) ?

Is bone marrow transplantation is curative for chronic myeloid leukemia caused by (Philadelphia chromosome) ?

Yes: In 70 to 80 percent of cases. The availability of tyrosine kinase inhibitors such as gleevec (imatinib) has moved transplant to 3rd line treatment ...Read more

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Any genetic counselors! who gets eds?

Any genetic counselors! who gets eds?

Rare problem: Ehlers danlos syndrome is a collection of at least 10 separate entities that have in common an abnormality of collagen production. The inheritance patterns include dominant, recessive, x-linked & has been reported as a new mutation. There is broad variability of expression within each subtype.The prevalence estimates range from 1/5000 to 1/100, 000 depending on type. ...Read more

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Are kids made through in vitro fertilization more spoiled?

Are kids made through in vitro fertilization more spoiled?

No: Kids born via ivf are no different than kids born via natural methods of conception. ...Read more

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What's the reasoning behind the gamma-delta t cells ability to destroy tumor and virally infected cells?

What's the reasoning behind the gamma-delta t cells ability to destroy tumor and virally infected cells?

Lymphocytes are: Immune mediators. B cells make antibody. T cells recognize foreign tissue (reject transplants), viral, fungal disease and memory, and recognize tumor antigens (surveillance) natural killer cells can destroy; blocking antibodies can protect, cd-4 t's (helpers) are low in hiv. No idea about gamma or delta other than greek letters sequenced after Alpha and beta. ...Read more

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2 early MC, heartbeat seen 2nd case, no live birth, turner's synd in fetus 2nd case, karyotyping & immunological tests normal. Way fwd? More tests?

2 early MC, heartbeat seen 2nd case, no live birth, turner's synd in fetus 2nd case, karyotyping & immunological tests normal. Way fwd? More tests?

Maternal fetal medicine: specialist is what you need with your high risk pregnancies, if you don't have one available in your area please seek advice in a teaching hospital ...Read more

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Can genetic testing ever be wrong?

Can genetic testing ever be wrong?

Sure: Genetic testing can be wrong due to many possible problems: mixed up specimens from someone else; degraded dna that can't be analyzed; lab errors in procedures; errors in reporting the results. You should always check on the lab and go over the diagnoses with a physician who knows you and as appropriate with a genetic counselor. A lot of this testing is highly automated, but can still have error. ...Read more

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Which specific doctors perform a chorionic villus sampling test?

Which specific doctors perform a chorionic villus sampling test?

MFMs: Your obstetrician would refer you to a maternal-fetal medicine specialist (perinatologist) or you may have one already if a prior pregnancy or other circumstances caused your current pregnancy to be high risk. ...Read more

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Can one's DNA change during life? Does that mean that different cells in my body might currently have mutations from one another?

Can one's DNA change during life? Does that mean that different cells in my body might currently have mutations from one another?

DNA does not change: No. Cells can change; they can get damaged; they can be affected by their environment. But, the underlying DNA does not change or mutate. ...Read more