A1298C Variant

A1298C – a mutation from adenine to cytosine at position 1298 within the gene. These variants lead to amino acid differences in the protein that reduces its ability to function.

1298:genes_MTHFR_baucom_institute

  • AA-normal homozygous
  • AC or CC – one or two variant copies
  • about 30% of the population
  • not associated with increased risk
  • associated with increased risk if found together with a 677 variant

Severe MTHFR deficiency:

  • Severe MTHFR deficiency is rare (about 50 cases worldwide) and caused by mutations resulting in 0-20% residual enzyme activity.
  • Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Hum Mutat 15 (3): 280-7
  • These patients exhibit:
  1. developmental delay,
  2. motor and gait dysfunction,
  3. seizures,
  4. neurological impairment and
  5. have extremely high levels of homocysteine in their plasma and urine as well as low to normal plasma methionine levels.

Epigenetic_mechanisms_MTHFR_methylationBottom line:  If one leads a lifestyle which is unhealthy (smoking, high stress, toxic exposures) and consumes an unhealthy diet (refined carbs, processed meats, saturated fats), having a heterozygous A1298C mutation may contribute to cardiovascular disease, depression, fibromyalgia and others.

Possible symptoms associated with A1298C MTHFR mutations:

  • hypertension
  • delayed speech
  • muscle pain
  • insomnia
  • irritable bowel syndrome
  • fibromyalgia
  • chronic fatigue syndrome
  • hand tremor
  • memory loss
  • headaches
  • brain fog

Possible signs associated with A1298C MTHFR Mutations:

  • elevated ammonia levels
  • decreased dopamine
  • decrease serotonin
  • decreased epinephrine and norepinephrine
  • decreased nitric oxide
  • elevated blood pressure
  • muscle tenderness
  • ulcers
  • pre-eclampsia

Possible conditions associated with A1298C MTHFR mutations:

  • fibromyalgia
  • chronic fatigue syndrome
  • autism
  • depression
  • insomnia
  • ADD/ADHD
  • irritable bowel syndrome
  • inflammatory bowel syndrome
  • erectile dysfunction
  • migraine
  • Raynaud’s
  • cancer
  • Alzheimer’s
  • Parkinson’s
  • recurrent miscarriages

Homocysteine & Vascular Disease

Pathophysiology of Homocysteine:

1. Interference with normal thrombolysisHomocysteine-Damage-Ladd-McNamara

  • decreased antithrombin III activity
  • Activation of factor V or XII
  • Inactivation of protein C
  • Promote binding of Lp(a) to fibrin
  • Platelet inhibition (interaction with nitric oxide)

2. Promote SMC proliferation

3. Promote LDL oxidation

4. Direct toxicity to endothelium

Genetic and Dietary Determinants of Serum Homocysteine Concentrations:

Genetic -

  • Cystathionine-beta-synthase deficiency
  • Methionine synthase deficiency
  • MTHFR deficiency
  • Defective absorption of B12 or folate
  • Prevalence – 30% Female V. 25% Male

lowering-homocysteine-levels-naturally-baucom-instituteNutritional -

  • Vitamin B6
  • Vitamin B12
  • Folate

Risks Associated with MTHFR Variants/High Homocysteine:

  • Cardiovascular Disease
  • Cerebral Vascular Disease (stroke)
  • Venous and Arterial Thrombosis
  • Methotrexate Toxicity for Cancer Therapy

 

Methylation

Methylation can turn genes on or off.

Some nutrients affect the methylation process quite dramatically. Methylating factors like B12, B6, MD, Zinc monitor specific methylation reactions.

Methylation_DNA_Baucom_InstituteMTHFR

What is MTHFR?

  • Methylenehydrofolatereductase is an enzyme responsible for converting 5, 10- methylenetetrahydrofolate to the product: 5-methytetrahydrofolate (5-MTHF)
  • Certain mutations in the gene coding for MTHFR produce an enzyme that has reduced activity
  • Reduced activity can lead to elevated levels of homocysteine especially when folate levels are low
  • MTHRF genotyping can provide information about potential causes of elevated homocysteine and how to address it
  • 5-methyltetrahydrofolate is involved in the metabolism of folate and homocysteine
  • The product of the reaction catalyzed by MTHFR converts homocysteine (a potentially toxic amino acid) to methionine (a useful and necessary amino acid)

Testosterone and Heart Disease

low_testosterone_heart_disease_baucom_instituteFor years, we’ve known that low testosterone for men has created many issues but now there is evidence that it is linked to heart disease. Here are a few of the findings (JAMA, Aging Male, Geriatrics, European Heart Journal,Circulation, JACC, JCEM, Endocrinology):

Low Testosterone and Heart Disease

  • Men with coronary heart disease had significantly lower total testosterone.
  • A study showed a correlation between lower testosterone levels and conditions associated with cardiovascular disease.
  • Another study showed that men with coronary heart disease had significantly lower levels than the control group.
  • Low testosterone levels have been shown to be associated with atherosclerosis in men.

High Estrogens and Heart DiseaseHEART-DISEASE-low testosterone-baucom-institute

  • A study showed that elevated circulating estradiol is a predictor of progression of carotid artery issues.
  • High estradiol levels in men were associated with acute myocardial infarctions.
  • Elevated levels of estrogen in men are associated with an increased risk of heart disease.

Testosterone Replacement and Heart Disease

  • A study showed that with an increase of testosterone there was a 14% drop in risk of death.
  • A study revealed that testosterone replacement was associated with a decrease in HDL-C and lipoprotein a.
  • Introduction of testosterone increases coronary artery blood flow in men with coronary heart disease.
  • Testosterone replacement has shown to decrease inflammation and lower total cholesterol.

Do you know a male in his 40′s or older with a history of heart disease in his family? Share these studies and encourage him to seek medical attention, particularly a doctor educated on the connection of hormones and disease prevention.

If you are a medical professional, what are your findings on the connection of low testosterone and heart disease?

To Age or Not To Age

Do we actually have a choice whether we age or not? Can we restore our bodies to health or is all the talk about longevity and restorative medicine just a bunch of hype?

Most people are interested in knowing how to lengthen their life span and create a healthier, happier life at the same time. But the average person deals mostly in putting out fires when symptoms occur, going to the doctor and getting some medicine to deal with the ailment, having surgery, etc.

restorative_medicine_baucom_instituteWhat if we got in front of the ol’ “8 ball”, so to speak, and became not only a “preventative health” society but a restorative one? Think of the disease prevention and quality of life we would create for ourselves!

There are now doctors becoming more interested in this type of medicine. In fact, more organizations of doctors that believe in not only holistic medicine but in restorative medicine are becoming more prevalent. There are also organizations in which MD’s, ND’s, NMD’s, and DO’s are sitting in the same conferences and are collaborating on the idea of restorative medicine.

Disease is rampant and there doesn’t seem be any better answer in dealing with these diseases other than drug therapies, surgery and living out one’s life. Not any kind of quality of life at all.

No wonder doctors are turning to other answers.

According to AARM (Association for the Advancement of Restorative Medicine), “. . . the principle is to actually restore fundamental balance and not simply suppress, palliate, or otherwise superficially treat symptoms. Many endocrine disorders and chronic diseases have a limited possibility to be overcome by conventional approaches.  Restorative Medicine offers new scientific data that leads us not to conform or succumb but rather spearheading the rebirth of restorative health.”

“Chronic diseases have now eclipsed infectious diseases, and the old paradigm of focusing on cures is not working,” according to Harvard Medical student, Sandeep Kishore. He says instead of focusing on medications to treat disease, we should focus on causes and not just treat symptoms.

Dr. Michael Friedman, President of AARM, says “the goal [of restorative medicine] is to repair tissue degeneration, optimize cellular and metabolic function, and build organ health. In many cases, medications can be discontinued altogether over time as health and vitality are truly restored.”

What do you think about approaching health from a more restorative perspective?

New Year, New You!

happy_healthy_restored_people_baucominstitute

It’s the new year! It’s 2014. A fresh start. A new beginning. At ANY age!

Can we actually reverse the aging process and restore our bodies to health or is all the talk about longevity and restorative medicine just a bunch of hype?

Most people are interested in knowing how to lengthen their life span and create a healthier, happier life at the same time. But the average person deals mostly in putting out fires like when symptoms arrive, going to the doctor and getting some medicine to deal with the ailment.

What if we got in front of the ol’ “8 ball”, so to speak, and became not only a “preventative health” society but a restorative one? Think of the disease prevention we would create in our world and the quality of life we would create!

There are now doctors becoming more interested in this type of medicine. In fact, there are more organizations of doctors that believe in not only holistic medicine but in restorative medicine which are becoming more prevalent. There are also organizations in which MD’s, ND’s, NMD’s, and DO’s are sitting in the same conferences and are collaborating on the idea of restorative medicine.

Disease is rampant and there doesn’t seem be any better answer in dealing with these diseases other than drug therapies, surgery and living out one’s life with the disease. Not any kind of quality of life at all.

No wonder doctors are turning to other answers.

According to AARM (Association for the Advancement of Restorative Medicine) says, “. . . the principle is to actually restore fundamental balance and not simply suppress, palliate, or otherwise superficially treat symptoms. Many endocrine disorders and chronic diseases have a limited possibility to be overcome by conventional approaches.  Restorative Medicine offers new scientific data that leads us not to conform or succumb but rather spearheading the rebirth of restorative health.”

“Chronic diseases have now eclipsed infectious diseases, and the old paradigm of focusing on cures is not working,” according to Harvard Medical student, Sandeep Kishore. He says instead of focusing on medications to treat disease, we should focus on causes and not just treat symptoms.

Dr. Michael Friedman, President of AARM, says “the goal [of restorative medicine] is to repair tissue degeneration, optimize cellular and metabolic function, and build organ health. In many cases, medications can be discontinued altogether over time as health and vitality are truly restored.”

What do you think about approaching your health from a more restorative perspective?

One Patient Among Many

familyMRGrad2013Hi. My name is Beth Rose. I am one patient among many.

I’m one patient among many others who see Dr. Karan Baucom and who has seen significant changes from diagnosis and prescribing changes for me in my daily life.

I began to see “Dr. B.” a few months ago because I was having several symptoms that began to worry me about my health. I have been a fairly healthy person throughout my 52 years.

I was very active when I was younger up until I had my children. Like a lot of moms, our kids take precedence, and we forget about taking care of ourselves! Over the last 20 years I have begun to have aches and pains in my joints, fasciitis in my feet, increasing back pain, terrible heartburn especially at night, increasing fatigue, no energy for running around with my kids, and the last few months terrible pain after eating in my upper torso. I have felt a mess and, with working our business that my husband and I own, I know the stress of that has contributed to the issues.

I had talked to Dr. B. about my family’s health a lot but Dr. B. asked how I was doing. She knew I was under a great deal of stress and could see the fatigue and lack of energy. I made an appointment and soon was undergoing several tests, including a full blood workup, sonograms, and mammogram. When Dr. B. got the test results back, she sat me down and gave me the most thorough report I’ve ever heard about my health! I was amazed with all the information and how it all linked together. My hormone levels were out of whack, I had gallstones, there are nodules on my thyroid, and I have several food allergies among other issues. I was totally shocked.

With advice and direction as well as prescribing a vitamin and bioidentical hormone supplement regimen, I am beginning to feel good again. I have increasing energy and less fatigue each day. Even better, my outlook on life is much more positive, which I think that has everything to do with the hormonal balance.

I appreciate my family physician, who we have been going to since our children were babies, but Dr. Baucom, as my specialist in Restorative Medicine, has been a life changer for me personally. I’ve never seen anyone take so much time with their patients, not only to diagnose and treat but to also educate.

I’ve been through the “School of Longevity” at The Baucom Institute. I hope to graduate with flying colors in the few next the months to come!

Disease Prevention Over Disease Management

american-heart-monthSomething tragic has happened in America’s clinical health agenda. Doctors have trained patients to rely on medicine for the answers rather than on learning ways to help themselves prevent their reliance on medicine or on medical help. The medical community has it all backwards.

You go to the doctor and you get medicine to deal with your issue. You go to the pharmacy to get the medicine the doctor prescribed to deal with your issue. In all that time, there is only an emphasis on how to treat the symptoms of the real problem not really prevent the problem from happening in the first place.

Longevity management medicine places emphasis on disease prevention versus disease treatment. Its medical protocols involve extensive initial laboratory baseline testing, hormone balancing, laboratory test monitoring, patient education, proper diet, nutritional supplementation and appropriate exercise.

At Baucom Institute, for instance, we go to great lengths to find where the patient is in terms of their health when they come to see us and then through extensive testing we determine the proper course of treatment and educating the patient how to change their own lifestyle so that they can help themselves change their own course toward health.

The Baucom Institute is interested in a quality of care with outcome measures which include: improved laboratory test profiles, enhanced strength, increased endurance, and a greater feeling of wellness as the patient works along with Dr. Baucom to achieve personalized life enhancing goals.

What has your experience been in working with a doctor? What have the results been for you?

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Hormones Part III–Estrogen

stress BW

Female healthcare in America is way behind that of our European counterparts. Unfortunately, menopause, its transition, or the lack of female hormones has been the brunt of many comedians’ jokes. Unfortunately, in our society we’ve almost considered it just matter of fact that women will enter a transition when they will become cranky, irritable, bloated, fat, obtain jowls, and have everything fall down. The Baucom Institute for Longevity and Life Enhancement more than understands this dilemma and wants to stop the cascade of ignorance that has occurred by bringing the standard of female hormone management to a standard of care that is secondary to none.

Estrogen is primarily a female sex hormone. There are three types of estrogen: estradiol, estriol, and estrone, which is not used because it predisposes women to cancer. When estrogen starts to wane in the menopausal years there are numerous signs: hot flashes, loss of sexual interest, mood swings and insomnia. Supplementing the body with bio available Estradiol, the main human estrogen, can help provide protection against diseases such as Alzheimer’s, dementia, various types of cancer, osteoporosis and heart disease, as well as help improve skin and hair and increase libido.

There are risks associated with estrogen replacement therapy, but with proper dosage, periodic monitoring of test results and proper medical management, the benefits outweigh the risk.

According to Edward Lichten, M.D.,PC, Birmingham, Michigan, “In the last 35 years, more than 40 epidemiological studies have been performed to gather information about the risks of taking estrogen and developing breast cancer. Most studies show either no increased risk or slight increase with prolonged estrogen use. And to the physician, this information is both comforting and reassuring that prescribing estrogen is in the best interest of our female patients.

THE ALTERNATIVE FORMS OF ESTROGEN

  1. Women who are fearful of estrogen causing breast cancer, find that the use of VAGINAL ESTROGEN CREAM is less objectionable. By using 1/2 to 2 grams daily, the vaginal and bladder symptoms are relieved with small amounts being absorbed.
  2. Women who want to take a bio-identical estrogen preparations may start with natural ESTRADIOl (E2) in the transdermal patch, or may elect to use a natural estrogen cream.
  3. Natural Estrogen Pellets. An old technique for the 1950′s and 1960′s is returning into use. This technique places compressed pellets of natural estrogen under the skin of the hip with a minor, office surgical procedure. In exchange for the 5 minutes it takes the physician to place these pellets, most women can remain hormonally stable for 3 to 6 months!”

http://www.usdoctor.com/estrogen.htm

 

 

Cortisol “The Stress Hormone”

2010-10-22-TheVisualMD_Wellness1Tip_StressThe adrenals are two triangular shaped glands located on top of each kidney. Cortisol is one of several hormones released by these powerful glands. It is released as a “stress hormone.”

Cortisol controls:
1. Blood sugar
2. Fat and Protein mobilization
3. Prevents inflammation
4. Will make the liver make sugar from fat

The pituitary gland activates the adrenal gland by secreting ACTH. ACTH is adrenocorticotropic hormone. It stimulates the “cortical” layer of the gland to make cortisol.
Cortisol has distinct bio-rhythms. It is high in the morning and by the evening is down. Stress alters the rhythm and may eventually cause the gland to become “exhausted.” “Adrenal Fatigue: The 21st Century Stress Syndrome” by James Wilson, ND, PhD, is an excellent book to explain why and how cortisol depletion can result in severe exhaustion.

Unfortunately this hormone is not understood by most physicians. It is a test rarely ordered and a syndrome basically ignored.
Stress factors:
1. Anger
2. Fear
3. Death of family member
4. Divorce
5. Marriage
6. Financial Worries
7. Job
8. Relationships
9. Personal Illness
10. In-laws
Just to name a few, are viewed as stress. These issues if chronic and severe can totally deplete this vital hormone. Thyroid and severe adrenal stress go hand in hand. Low blood pressure as well as low blood sugar may be the only symptoms.

Recovery from adrenal stress can take up to a year with treatment to resolve.
Cortisol is vital to the feeling of well-being. Longevity and quality of life are severely compromised when this powerful and needed hormone is barely available. Patients will rely on sugar and caffeine to “boost” their drive because they are unaware as to the real reason for their chronic fatigue.ponokefalos andras

Since the adrenal gland is needed for survival when compromised, all the other glands suffer as well. The thyroid gland in trying to pick up the slack will, in time, become hypo active itself, further compounding the clinical situation.

Eventually the immune system falters. Lupus, Crohn’s, colitis, chronic sinus and infections plague the individual. Abdominal obesity (cortisol paunch) along with decreased HDL cholesterol, increased triglycerides and increased blood pressure herald the demise of this vital hormone. There is acute adrenal fatigue, and mild and high adrenal fatigue. Saliva testing of the morning, noon, evening and night cortisol levels is the best way to determine the level of fatigue.

Treatment is based on the stage of fatigue. Support is given to the glands until they are healed. Lifestyle and diet must be altered. Of course, alleviating the stress factors is paramount to treatment.

What difficulties do you have that you might relate with stress?