Would You Believe Only 20 People In the World Have DBHD?

As much as we want the letters DBHD to stand for “Daily Better Health, Dearie,” those very rare people, whose genetic makeup includes a particular mutation, will translate the acronym more correctly into dopamine beta-hydroxylase deficiency.

That's a mouthful. Source: www.giphy.com
That’s a mouthful. Source: www.giphy.com

The gene in question is DBH, which produces the enzyme, dopamine beta(ß)-hydroxylase. Dopamine is a neurotransmitter—a brain chemical that communicates information to other parts of the body.

Some neurotransmitters only stimulate the brain (excitatory), and some calm and help create balance (inhibitory). Dopamine does both, and plays a role in:

  • Movement
  • Memory
  • Pleasurable reward
  • Behavior and cognition
  • Attention
  • Inhibiting the production of prolactin
  • Sleep
  • Mood
  • Learning

The enzyme, dopamine beta(ß)-hydroxylase, changes dopamine into norepinephrine, a hormone and neurotransmitter that causes blood vessels to constrict, which can increase heart rate, blood pressure, and blood sugar levels.

I know it's a lot to take in. Bear with me. Source: www.giphy.com
I know it’s a lot to take in. Bear with me. Source: www.giphy.com

When there’s not enough DBH (a.k.a deficiency), dopamine can’t be converted into norepinephrine, and that affects how your body’s able to adjust to changes in position (standing up from a sitting position, for example) or in temperature.

Here are 5 crazy symptoms of DBHD:

  1. Falling down after standing up—or after you’ve been standing for a long time (called orthostatic hypotension)
  2. Droopy eyelids (called ptosis) and frequent stuffy noses
  3. Fainting or extreme fatigue during exercise
  4. Males may have ejaculation problems in which the semen erupts backwards, into the bladder
  5. Women may experience more miscarriages or stillbirths than the general population
Ptosis
Ptosis, or a droopy eyelid, can be a sign of GBHD. Source: Elements of Morphology, National Human Genome Research Institute

Treatment for DBH deficiency has evolved as the condition becomes better understood.

Researchers have discovered that, though people with DBH deficiency have practically no norepinephrine, epinephrine, or the by-products they produce, they also have an increased level of dopamine in their blood plasma, in the fluid around the brain and spine, and in their urine. Currently, medical researchers aim to reduce dopamine levels and increase norepinephrine levels. They have been pleased with the results they are seeing so far.

Check out the work of Vanderbilt University’s Autonomic Dysfunction Center (ADC) to learn more or become a volunteer!

Science RULES! Source: www.giphy.com
Science RULES! Source: www.giphy.com

EmpatheticBadass

EmpatheticBadass

EmpatheticBadass is a young-at-heart writer from Ohio (Go, Bobcats & The Marching 110!)) who is passionate about being a voice for the patient perspective.

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