Choline Dehydrogenase and Sperm Function: Effects of Betaine
| Status: | Recruiting |
|---|---|
| Conditions: | Women's Studies, Infertility |
| Therapuetic Areas: | Reproductive |
| Healthy: | No |
| Age Range: | 18 - 60 |
| Updated: | 4/21/2016 |
| Start Date: | April 2014 |
| End Date: | July 2016 |
| Contact: | Tondra Blevins |
| Email: | Sperm_Study@unc.edu |
| Phone: | 704-250-5035 |
The ability of sperm to swim is important for normal fertility. Men with a genetic variation
in the gene coding for Choline Dehydrogenase (CHDH) have decreased energy production by
sperm, and their sperm do not swim normally. The metabolic product of this gene is a
nutrient called betaine (found normally in the diet as a part of many foods such as spinach,
beets and grain products). This study tests whether treatment with betaine is safe and
whether it can normalize energy production in sperm of these men and restore normal swimming
ability.
in the gene coding for Choline Dehydrogenase (CHDH) have decreased energy production by
sperm, and their sperm do not swim normally. The metabolic product of this gene is a
nutrient called betaine (found normally in the diet as a part of many foods such as spinach,
beets and grain products). This study tests whether treatment with betaine is safe and
whether it can normalize energy production in sperm of these men and restore normal swimming
ability.
Unidentified genetic aberrations such as single nucleotide polymorphisms (SNPs) may be the
underlying cause of many cases of idiopathic infertility in men. Choline dehydrogenase
(encoded by CHDH) converts choline to betaine in the mitochondria. 5-9% of men have 2
alleles for a functional SNP in CHDH (rs12676), and they have low sperm adenosine
triphosphate (ATP) concentrations with impaired sperm motility (asthenospermia) that should
decrease fertility. Male mice in which CHDH is deleted also have very low sperm ATP,
asthenospermia and are infertile. Supplementation of these mice with dietary betaine
increases sperm motility and ATP concentrations.
This purpose of this study is to conduct a phase I study of betaine treatment in men with 2
minor alleles for CHDH rs12676 to determine whether betaine supplementation is safe and to
obtain preliminary data on the effects of betaine on sperm mitochondrial ATP concentrations
and sperm motility in these men.
underlying cause of many cases of idiopathic infertility in men. Choline dehydrogenase
(encoded by CHDH) converts choline to betaine in the mitochondria. 5-9% of men have 2
alleles for a functional SNP in CHDH (rs12676), and they have low sperm adenosine
triphosphate (ATP) concentrations with impaired sperm motility (asthenospermia) that should
decrease fertility. Male mice in which CHDH is deleted also have very low sperm ATP,
asthenospermia and are infertile. Supplementation of these mice with dietary betaine
increases sperm motility and ATP concentrations.
This purpose of this study is to conduct a phase I study of betaine treatment in men with 2
minor alleles for CHDH rs12676 to determine whether betaine supplementation is safe and to
obtain preliminary data on the effects of betaine on sperm mitochondrial ATP concentrations
and sperm motility in these men.
Inclusion Criteria:
- 18 - 60 year old men of multiple races and ethnicities
- Estimated dietary intake of betaine of <150 mg/day
- Carrying two alleles of the rs 12676 single nucleotide polymorphism
Exclusion Criteria:
- Cystathionine-beta-synthase (CBS) deficiency
- Currently taking betaine supplements
- Currently receiving chemotherapy, radiation or any gonadotoxic drug
- Female gender
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