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Showing posts with label genetic. Show all posts
Showing posts with label genetic. Show all posts

October 15, 2012

Why Are Some Patients Sensitive to Narcotics and Others are Not?

Blame cytochrome P450 2D6, also known as CYP2D6. Found in the liver, it is responsible for metabolizing drugs including many narcotics. It also determines how "sensitive" a patient is to these drugs. For example, codeine is not bioactive until it is metabolized by CYP2D6 into morphine, the bioactive form that helps with pain. As such, how "sensitive" a patient is to codeine is determined by how active their CYP2D6 is. The more active, the more quickly codeine is c…
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November 30, 2011

The "Morning Person" Gene

German scientists have potentially discovered a genetic reason why some people are morning people whereas others are night-owls. The gene called ABCC9 dubbed "morning person" gene was identified by analyzing 4251 individuals who reported their sleeping pattern. The ABCC9 variant type and number of copies significantly affected the number of hours of sleep. To confirm this finding, scientists modified the ABCC9 gene in the fruit fly and obtained similar results. The gene codes…
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October 29, 2011

Cold Sores Due to a Single Gene

Specifically, individuals who suffer from cold sores triggered by Herpes Virus Simplex - 1 (HSV-1) several times a year may have a single nucleotide polymorphism in their gene C21orf91 – dubbed rs1062202. Researchers have suggested it be called by the more "easy-to-remember" name Cold Sore Susceptibility Gene 1 (CSSG1). Having this genetic change of swapping a thymine to a cytosine nucleotide was significantly associated (p=0.0047) with more frequent cold sores. Analysis has also…
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May 23, 2010

Genetic Cause for Stuttering?

It appears that at least in some individuals, their stuttering may be caused by a genetic mutation, specifically a missense mutation in the N-acetylglucosamine-1-phosphate transferase gene (GNPTAB), which encodes the alpha and beta catalytic subunits of GlcNAc-phosphotransferase protein (part of the lysosomal enzyme–targeting pathway). Other genetic mutations causing stuttering was found in the GNPTAB, GNPTG, and NAGPA genes. These genes encode enzymes that generate the mannose-6-phosphate …
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January 30, 2010

For $349, Test Your DNA for 100+ Hereditary Diseases

Image from Wikipedia A company called Counsyl claims to be able to test an individual's DNA and determine the risk of passing on over 100 hereditary diseases to future offspring for $349 (or free with insurance). Such hereditary diseases they are able to test for include the commonly known cystic fibrosis to more rare conditions like Nijmegen Breakage Syndrome. The full list can be viewed here . Though many of the diseases listed are associated with ear, nose, throat problems, the li…
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