Huge energy today with Grapefruit and Ubiquinol (Coenzyme Q10). We'll see about tomorrow.

[cb2]

i did a search early and found the company that makes the Kaneka and here are products that use their ubiquonil
https://ubiquinol.org/brands

 

[Sundancer]

I'm doing some basic research on grapefruit. For those who are interested, here are a few interesting snipits on grapefruit. They bounce around.

thanks, I bookmarked it for later use.

I do not remember at the moment why I was warned away from grapefruit. But I have some years ago used a mixture of grapefruit-juice and egg-yolks before breakfast. I remember that it was good for bile-flow.
later I found that it is recommended for ' livercleansing' whatever that may be.

It tasted nice and reading your story, it's time to find out why I was warned away from the stuff. Memory is still not what it used to be though...

 

[BeautifulDay]

Other changes that I have noticed since taking the ubiquinol with ½ a grapefruit.

For years, I’ve had to take into consideration the energy needed for showering when planning out my day’s energy usage. Just rinsing off takes energy, let alone the days when I wash my hair. Healthy people don’t think about the energy necessary to shower, let alone to dry one’s hair. It’s just part of their day. To me, it’s an energy stealer. Many times I’ve showered and then been too tired from the shower to go do what I was planning to do. Therefore, showering every single day just didn’t happen. Yet, since combining the CoQ10 and grapefruit, I’ve been showering every day. I even dried my hair with the hairdryer one day and then followed it up with the curling iron. I haven’t curled my hair once since my step-daughter’s wedding this past summer. I used to curl my hair every single day.

I've seen my therapist every few weeks for many years now. She’s been in the same office with the same furniture the entire time. Today I had an appointment. I noticed she had a black bouncy exercise seat as her desk chair and I noticed a saying that I found inspiring. “Life isn’t about waiting for the storm to pass. It’s about learning to dance in the rain.” These aren’t new items to her office. I believe it’s that with more energy in my brain, all of a sudden my world is opening up where I’m able to take in more things. With limited energy, my brain is only looking for the pertinent things to me in the moment. My brain automatically isn’t wasting energy on unnecessary items. It’s odd taking in more (a broader view), but that is what’s happening. At the same time, I’m also noticing the rust on my car, etc… so it can cut both ways.

Today I made our teenage son’s bed, took his pile of dishes down and ran the dishwasher, and then I noticed the recycling truck came and I went out and brought the recycling can back up the driveway. I never make an extra trip out to bring it up the driveway. That’s just wasted energy. Generally, I’ll wait until I pick up a child from school – and then if I’m at my regular completely exhausted afternoon stage, I still put off bringing up the can.

Yesterday, I began to pester the doctors who are months behind in providing things to us. I sent out three e-mails yesterday afternoon about prescriptions, disability parking placard, etc… These things take energy for me to deal with. I have to be able to wrap my head around them and I’ve also got to put on my assertive cap. I can only do such things early in the day and only during my best two hours. Otherwise, it takes 4 times as long and it ends up not being done right. Yet, yesterday I was able to tackle 3 of these and in the late afternoon.

Yesterday, our littlest one was home with a headache and I took her to her pediatrician in the morning. That made me forget to take the CoQ10 and grapefruit. Two hours later, the familiar complete exhaustion started taking over. I had to prop my foot up on the chair. I rested my head on my hand. My perky demeanor slipped away. Walking was painful and it kept growing worse. The malaise that crept in was like the familiar dark cloud that I live with all the time. It really showed me the difference between how I feel most days and how a normal person might feel. It’s such a huge contrast. There is no way for others to ever understand what it’s like to live in our bodies. The complete exhausted feeling that every drop of blood has been drained is hard for others to understand. It really shows how we should pat ourselves on the back every day. We are living life with our batteries empty and yet people have no idea from just looking at us.

As soon as we were back home after the doctor’s appointment I took the ubiquinol and ½ grapefruit. It took 1.5-2 hours to feel the energy begin to course through my body again. I’m not sure my energy reached the same height as the other days after letting it slip for a few hours.

 

[BeautifulDay]

While I’m feeling better than I have in years, I’m still wondering if this will last. And if it is due to the ubiquinol with grapefruit, it may not be the answer for everyone.

There are many things I do every day that I know if I let slip over the weeks, then there is an energy drop.

- Supplement with Vitamin D3. When it’s sunny, I’ll sit outside midday to create the vitamin D. When I don’t supplement with D3, my blood level is very low. My fatigue is worse when my Vitamin D is low.

- Supplement with Vitamin B12. When my blood serum is low, my fatigue is worse.

- Supplement with Riboflavin. I again see a difference when I supplement.


Years ago, I started to lose my memory (I forgot what year/decade it was, I couldn’t always access my kids’ names, etc…). So I read up on the studies of things I could try. Here are some of the things that I believed helped my memory (and brain fatigue) that I’m still doing today.

I don’t eat white bread. Instead I eat multigrain crackers. For breakfast I pour some frozen blueberries (it’s winter here) into a bowl and heat in the microwave for 30 seconds. I eat spoonful’s of blueberries with the crackers.

I have coffee which stimulates my memory and makes me regular.

I have a bowl of spinach every day.

I eat fruit every day (grapefruit now).


So while the Ubiquinol with grapefruit might have pushed me above where I’ve been before (as far as energy), there are many things I do that I believe help me to be the best that I can be. If I go down from this, it’s not because I haven’t been fighting and investigating and self-testing to see what improves my energy.

While I find the ubiquinol with grapefruit very promising, I’m still wanting to see what it’s doing for my energy a few more weeks and months out.

 

[aquariusgirl]

@BeautifulDay I could use your help. Enlis says I have a missense on an intron (is that even the right way to express it?) NUDFA6...and a disrupt also.
I plugged the rs # in 23andme...and got nothing.. but NDUFA6 seems interesting from a mitochondrial point of view. See below from wiki. Is this worth pursuing? Thanks


NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6 is an enzyme that in humans is encoded by the NDUFA6gene.[5] The NDUFA6 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain.[6]

 

[aquariusgirl]

@alicec could I get your input also? thanks.

 

[alicec]

I have a missense on an intron

That makes no sense, unless possibly they mean the change disrupts a splice junction.

Missense mutation refer to nucleotide changes which alters an amino acid so by definition, it occurs in the coding region, not in an intron.

and a disrupt also.

I'd need more info to now what they are referring to.

I plugged the rs # in 23andme...and got nothing.. but NDUFA6 seems interesting from a mitochondrial point of view. See below from wiki. Is this worth pursuing? Thanks

I don't follow. Didn't the original data that Enlis is analysing come from 23andme? - or do you mean that 23andme didn't give any links to info about that particular SNP?

The protein certainly is interesting but that doesn't mean that a SNP in the gene for the protein is equally interesting. It depends what effect it has. You would need to search for the research on the particular SNP. If Enlis is flagging it presumably there is some link to research.

The OMIM entry for the gene doesn't list any research relating to pathogenic variants.

I am reminded of the flurry of claims about variants in NDUFA7 that I think were identified on Sterling's app. They were all irrelevant. See this thread.

 

[BeautifulDay]

@BeautifulDay I could use your help. Enlis says I have a missense on an intron (is that even the right way to express it?) NUDFA6...and a disrupt also.
I plugged the rs # in 23andme...and got nothing.. but NDUFA6 seems interesting from a mitochondrial point of view. See below from wiki. Is this worth pursuing? Thanks


NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6 is an enzyme that in humans is encoded by the NDUFA6gene.[5] The NDUFA6 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain.[6]

The NDUFA6 gene is considered highly conserved. Per Wikipedia "In evolutionary biology, conserved sequences are similar or identical sequences in nucleic acids (DNA and RNA) or proteins across species (orthologous sequences) or within a genome (paralogous sequences). Conservation indicates that a sequence has been maintained by natural selection. A highly conserved sequence is one that has remained relatively unchanged far back up the phylogenetic tree, and hence far back in geological time."

Highly conserved areas can mean that the slightest deviation can cause significant problems that result in the variant dying out. The NDUFA6 gene has not had many studies done on it. Anything impacting the processing or transportation of ubiquinone could create a mitochondrial issue. It's a matter of really getting into the details to see if the change (variant) is a more benign change or more likely to cause an issue. There are many ways to do this. But first I'll need more details.

Nobody from my large group of 23andme testers, and nobody from my group tested with WGS (Whole Genome Sequencing) has ever been found to have a NUDFA6 mutation.

Please type out the line from where you did your search on Enlis that made the mutation pop up. For example, Chromosome Position, Var Type, Ref Seq, Var Seq, Gene, Gene Component, Protein Impact, Allele Freq, ...

Then click on the Chromosome Position on the left side of the column for the variant. Please then type out what you see in the row in the top table from Variant Type to Databases. Lower down, please type of what is in the Variation Detail Box?

Most variants turn out to be nothing. But you have found a gene where mutations can impact the mitochondria. Great job. Now it's a matter of seeing if we can eliminate this mutation for other reasons. For example, common, or even though on a conserved gene it's not a conserved spot, etc....

From Gene Cards:

"This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme of the mitochondrial membrane respiratory chain. Complex I functions in electron transfer from NADH to the respiratory chain. [provided by RefSeq, Oct 2016]"

"NDUFA6 (NADH:Ubiquinone Oxidoreductase Subunit A6) is a Protein Coding gene. Diseases associated with NDUFA6 include Korean Hemorrhagic Fever and Atrial Tachyarrhythmia With Short Pr Interval. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity."
http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDUFA6

 

[BeautifulDay]

The researchers and pharmaceutical companies all seem to be aware of the importance of CoQ10 on many diseases and are in various stages of research. The biggest hurtle reported over and over again in various studies is that: “Coenzyme Q10 (Q10) has a poor bioavailability due to its very low aqueous solubility and high molecular weight.” https://www.researchgate.net/public...al_bioavailability_Effect_of_formulation_type

The above publication continues with:

“For that purpose, the percentage of the drug absorbed to the blood stream out of the administered dose was calculated as the fraction absorbed (Fa%). The Fa% for the nanoemulsions discussed in this article did not correlate with droplet size. In human studies most of the delivery systems had a low Fa% being in the range from 1.53 to 12.48 %. The highest Fa% value was found to be for the self-emulsified drug delivery systems (SEDDS). In dogs studies, the Fa% values ranged between 0.28 (cyclodextrin complex) and 4.8 %. In rat studies, some other DDS like emulsions and solubilized formulations showed Fa% of around 0.22 %. The relationship between the average Fa% in rats, dogs and humans was found to be 1:15:20. One recent study applied both oral and intravenous delivery of Q10; the orally tested SEDDS formulation had an absolute bioavailability of 2.2 % corresponding to Fa% = 0.04 %. The studies with Q10 formulations based only on in vitro data were also discussed and assessed regarding the influence of formulation on solubility, release and/or uptake.”

Therefore the researchers know the hurdle yet to be overcome is improving absorption. There are various forms of CoQ10 on the market, but none is yet perfected to where we need it to be.

With the study out of Japan showing that grapefruit significantly increases absorption, and the other studies showing high fat diets or black pepper to potentially improve absorption, I have no doubt that eventually there will be a CoQ10 formula containing some chemical compound from grapefruit. There are already some with fat. Many doctors ask patients to take CoQ10 with meals with fat.

But then once all these new and improved absorption formulas are created, then there is the testing to see if they really help people, if they are toxic, etc….. Then a researcher will discover that something else is better and on it will go improving.

But until then, I’ve got my grapefruit and slicer.

 

[BeautifulDay]

I've been eating red grapefruit (red on the inside) rather than yellow inside most days. My lipids are high, so this study got my little grey cells going.

Title: “Red Grapefruit Positively Influences Serum Triglyceride Level in Patients Suffering from Coronary Atherosclerosis:  Studies in Vitro and in Humans”

Abstract: “The contents of the bioactive compounds in red and blond grapefruits and their influence on humans suffering from hypertriglyceridemia were studied. It was found that red grapefruit has a higher content of bioactive compounds and a higher antioxidant potential than blond grapefruit, determined by oxygen radical scavenging capacity, 1,1-diphenyl-2-picrylhydrazyl, carotenoid bleaching, and Folin−Ciocalteu assays. Fifty-seven hyperlipidemic patients, ages 39−72 years, after coronary bypass surgery, recruited from the Institute's pool of volunteers, were randomly divided into three equal in number (19) groups:  two experimental (red and blond groups) and one control group (CG). During 30 consecutive days of the investigation the diets of the patients of the red and blond dietary groups were daily supplemented with one equal in weight fresh red or blond grapefruit, respectively. Before and after this trial, serum lipid levels of all fractions and serum antioxidant activity were determined. It was found that serum lipid levels in patients of the red and blond groups versus the CG after treatment were decreased:  (a) total cholesterol, 6.69 versus 7.92 mmol/L, 15.5%, and 7.32 versus 7.92 mmol/L, 7.6%, respectively; (b) low-density lipoprotein cholesterol, 5.01 versus 6.29 mmol/L, 20.3%, and 5.62 versus 6.29 mmol/L, 10.7%, respectively; (c) triglycerides, 1.69 versus 2.32 mmol/L, 17.2%, and 2.19 versus 2.32 mmol/L, 5.6%, respectively. No changes in the serum lipid levels in patients of the CG were found. In conclusion, fresh red grapefruit contains higher quantities of bioactive compounds and has significantly higher antioxidant potential than blond grapefruit. Diet supplemented with fresh red grapefruit positively influences serum lipid levels of all fractions, especially serum triglycerides and also serum antioxidant activity. The addition of fresh red grapefruit to generally accepted diets could be beneficial for hyperlipidemic, especially hypertriglyceridemic, patients suffering from coronary atherosclerosis.”

https://pubs.acs.org/doi/abs/10.1021/jf058171g

 

[pattismith]

@BeautifulDay ,

my own problem with Ubiquinol is not absorption (which seems to work well for me when I eat fat with it), but side effects (I get strong headache with it).

Did you try Idebenone (a synthetic ubiquinone compound-like)?

 

[BeautifulDay]

The question has been raised about grapefruit and the possibility of an increase in breast cancer. In the first study below, they found a link for postmenopausal women between grapefruit and breast cancer. However, in the second study/letter, researchers at the Harvard School of Public Health disagreed with the first study’s finding and they themselves found a decrease in breast cancer from eating grapefruit. While many women’s journal articles rely on the first study, I haven’t found any that reported the second study/letter. I wish those women’s journal articles would start covering all the issues and sides. There is no clear answer. For now I’m enjoying the increase in energy and watching my breasts.

First study - Title: “Prospective study of grapefruit intake and risk of breast cancer in postmenopausal women: the Multiethnic Cohort Study.”

Abstract: “In vitro and in vivo studies have shown that cytochrome P450 3A4 (CYP3A4) is involved in the metabolism of oestrogens. There is evidence that grapefruit, an inhibitor of CYP3A4, increases plasma oestrogen concentrations. Since it is well established that oestrogen is associated with breast cancer risk, it is plausible that regular intake of grapefruit would increase a woman's risk of breast cancer. We investigated the association of grapefruit intake with breast cancer risk in the Hawaii-Los Angeles Multiethnic Cohort Study, a prospective cohort that includes over 50 000 postmenopausal women from five racial/ethnic groups. A total of 1657 incident breast cancer cases were available for analysis. Grapefruit intake was significantly associated with an increased risk of breast cancer (relative risk=1.30, 95% confidence interval 1.06-1.58) for subjects in the highest category of intake, that is, one-quarter grapefruit or more per day, compared to non-consumers (P(trend)=0.015). An increased risk of similar magnitude was seen in users of oestrogen therapy, users of oestrogen+progestin therapy, and among never users of hormone therapy. Grapefruit intake may increase the risk of breast cancer among postmenopausal women.”
https://www.ncbi.nlm.nih.gov/pubmed/17622247?dopt=Abstract&holding=npg


Second study/letter from Harvard School of Public Health – Title: “A prospective study of grapefruit and grapefruit juice intake and breast cancer risk”

Abstract: “Sir, In a recent interesting study by Monroe et al (2007), grapefruit intake was associated with an increase in breast cancer risk, and they hypothesised that this might be mediated by an effect on endogenous oestrogen levels. However, the researchers were unable to examine grapefruit juice intake. Therefore, we examined grapefruit and grapefruit juice intake and breast cancer risk in the Nurses' Health Study. Briefly, the Nurses' Health Study is a prospective cohort consisting of women aged 30–55 years in 1976 (Kim et al 2006). Medical and lifestyle information was obtained with general follow-up questionnaires every 2 years and with semi quantitative food frequency questionnaires that included intakes of grapefruit and grapefruit juice in 1984, 1986, 1990, 1994, and 1998. In both age-adjusted (not shown) and multivariate analyses adjusted for standard breast cancer risk factors, we found no overall association with either grapefruit or grapefruit juice intake and breast cancer risk among all women in the cohort, and among postmenopausal women only (Table 1). Furthermore, our results did not change once additional covariates – alcohol, saturated fat, dietary fibre, and soluble fibre – included by Monroe et al were added to our models.

Stratification by BMI did not alter the breast cancer risk with either grapefruit or grapefruit juice intake. However, stratification by hormone therapy showed a significant decrease in risk of breast cancer with greater intake of grapefruit in women who never used hormone therapy (multivariate RR comparing ¼ grapefruit or more per day to none=0.78, 95% CI, 0.59–1.04, P trend=0.03). This is contrary to the findings of Monroe et al, who observed a significant increase in risk of breast cancer with greater consumption of grapefruit in this subgroup.

Furthermore, the association between grapefruit (not grapefruit juice) intake and breast cancer risk differed significantly by oestrogen and progesterone receptor status of the tumours. No association was observed in women with oestrogen and progesterone receptor positive cancers. However, in women with oestrogen and progesterone receptor negative cancers, there was a significant decrease in breast cancer risk with increased consumption of grapefruit (multivariate RR comparing ¼ grapefruit or more per day to none=0.60, 95% CI, 0.37–0.98, P trend=0.03).

We also examined cross-sectionally the relationship between consumption of grapefruit and grapefruit juice and plasma levels of oestrogens among 701 postmenopausal women not using hormone replacement. No significant correlation was observed (grapefruit, grapefruit juice) for plasma oestradiol (r=0.02, −0.04), oestrone (r=0.00, −0.02), or oestrone sulphate (0.09, 0.01).

Our findings do not support an adverse effect of consumption of grapefruit or grapefruit juice on risk of breast cancer or on endogenous hormone levels.”
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2359690/

 

[BeautifulDay]

@BeautifulDay ,

my own problem with Ubiquinol is not absorption (which seems to work well for me when I eat fat with it), but side effects (I get strong headache with it).

Did you try Idebenone (a synthetic ubiquinone compound-like)?

Very interesting! Thanks!!!

Here is Wikipedia's take on it - https://en.wikipedia.org/wiki/Idebenone

At the bottom of Wikipedia's summary - it also seems to have an absorption issue. "Idebenone is well absorbed from the gut but undergoes excessive first pass metabolism in the liver, so that less than 1% reach the circulation. This rate can be improved with special formulations (suspensions) of idebenone and by administering it together with fat food; but even taking these measures bioavailability still seems to be considerably less than 14% in humans. More than 99% of the circulating drug are bound to plasma proteins. Idebenone metabolites include glucuronides and sulfates, which are mainly (~80%) excreted via the urine."

I found this interesting
http://www.santhera.com/assets/files/content/scientific-pres/7216-72x36-ATS_BAE-Poster-proof-4.pdf

OK, just found this -- definitely going to ask my MitoD doc for thoughts on Idebenone.
Title: "Oral idebenone attenuates murine lupus"
"A role for mitochondrial dysfunction has been proposed in the immune dysregulation and organ damage characteristic of systemic lupus erythematous (SLE) disease pathogenesis. We have now examined the role of drugs that may improve mitochondrial function in SLE symptomatology in murine models of lupus. Idebenone is a synthetic quinone analog compound of coenzyme Q10 that has been safely used in humans to treat diverse diseases where mitochondria function is deficient. Idebenone is considered a strong antioxidant able to protect cells against enhanced reactive oxygen species’ toxicity. Idebenone also improves electron transfer chain function in overloaded and/or damaged mitochondria. Idebenone was administered 250 mg/day/kg orally to two different mouse models of SLE starting in preclinical stages (10 weeks of age) for 6 weeks (MRL/lpr mice) or 4 months (NZM2328 mice). Disease attenuation was observed in both models at euthanasia. Specifically, proteinuria, intestinal inflammation and splenomegaly were decreased in both models upon exposure to idebenone, while levels of autoantibodies were not affected. In the MRL/lpr mouse model, skin lesions characteristic of this model were significantly decreased. In addition, levels of proinflammatory cytokines, type I IFNs and inflammasome-related genes were significantly decreased. No obvious toxicity was observed following exposure to idebenone. In conclusion, idebenone modulates lupus disease activity and organ damage severity and future studies should further address mechanism of action and potential role in human disease."
http://www.jimmunol.org/content/198/1_Supplement/224.21

And then there is this. Title: "Upregulation of Enzymatic Idebenone Reduction Activity after Proinflammatory Stimulation of Microglia"
https://www.sciencedirect.com/science/article/pii/S0891584917310432

@pattismith You've definitely given me something new to chew on. Thanks!

 

[Jesse2233]

Really interested to see your long term benefits from this. Your body may begin repairing other areas with the extra energy

 

[Mary]

. I also take my prescription for MitoMix with 300 mg of Ubiquinol at breakfast and also lunch.

@BeautifulDay - this is amazing, I am so happy for you! I am going to buy some grapefruit juice and/or fruit and see what happens.

It's a little unclear - do you take 300 mg. Ubiquinol both with breakfast and with lunch, for a total of 600 mg a day?

Thanks so much for posting all this!

 

[researcher]

Please don't stop posting @BeautifulDay!

 

[aquariusgirl]

@BeautifulDay

For example, Chromosome Position, Var Type, Ref Seq, Var Seq, Gene, Gene Component, Protein Impact, Allele Freq, ...

M 13708 13708 SNP (x1) G A MT-ND5 CDS MISSENSE A-458-T 6.92 no Leber's optic atrophy(Likely pathogenic)

M 15452 15452 SNP (x1) C A MT-CYB CDS MISSENSE L-236-I 9.37 no Neoplasm of ovary(Likely pathogenic

SNP x1 C/A 15,452 - -9.37% no no view Barn #1 dbSNP NOvel

Missense in 1 transcript Likely pathogenic



22 42524947 42524947 SNP (x1) C T rs3892097 NDUFA6-AS1;CYP2D6 INTRON;ACCEPTOR DISRUPT 11.01 Yes (3.3) Debrisoquine; poor metabolism of(Drug response)

22 42526694 42526694 SNP (x1) G A rs1065852 NDUFA6-AS1;CYP2D6 INTRON;CDS MISSENSE P-34-S 20.43 Yes (3.4) Debrisoquine; poor metabolism of(Drug response)

so looks like the NDUFA6 are not pathogenic...just flagged for drug response.

 

[E.man]

@BeautifulDay if you were selling something I'd be suspicious because of your improvements. As it is I'm going to be looking for grapefruit/juice. Red grapefruit ?.....mmmm ?

On the weird cosmic level Dad has been asking me if I want to eat grapefruit for 40? years and I've been saying No. I had to ask him if he was trying to wind me up on purpose seeing as he never seemed to get the message of "No I don't want any bloody grapefruit". Now maybe I do .

 

[alicec]

o looks like the NDUFA6 are not pathogenic...just flagged for drug response.

No, that is not what they are saying, although the way they say it is confusing, so your mix-up is understandable.

First they are referring to NDUFA6-AS1, not NDUFA6 - this is NDUDFA6 antisense RNA 1 (more on antisense later) and it is mentioned in the context of describing the position on the chromosome of the SNP.

As you can see from this entry, the NDUFA6-AS1 gene is adjacent to the gene for CYP2D6.

The SNPs are actually in CYP2D6 - see this and this entry. Since CYP2D6 is a major detox enzyme involved in drug metabolism, this is the reason for the reference to drug response.

The SNPs, at least in the homozygous form, have an effect on metabolism of certain drugs. You would need to read the references linked on the dbSNP pages to know if there is any consequence for your heterozygote status.

The first SNP is indeed on a splice site and so disrupts mRNA processing but Enlis has made an error in saying that the second SNP is on an intron. The next statements that the SNP is missense and has an effect on protein structure is completely incompatible. One or other statement is wrong. The dbSNP entry clarifies this. The SNP is in the coding region and results in a change to the protein.

Antisense genes code for regulatory RNA molecules which are complementary to the sequence of the gene they regulate. See the Wikipedia entry.

 

[aquariusgirl]

Thanks Alice.