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Choline Dehydrogenase and Sperm Function: Effects of Betaine

Phase 1
Completed
Conditions
Men Carrying 2 Minor Alleles for Choline Dehydrogenase rs12676
Male Infertility
Interventions
Registration Number
NCT02122211
Lead Sponsor
University of North Carolina, Chapel Hill
Brief Summary

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.

Detailed Description

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.

Recruitment & Eligibility

Status
COMPLETED
Sex
Male
Target Recruitment
6
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

Study & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Arm && Interventions
GroupInterventionDescription
Betaine supplementBetaine supplementWill use powdered betaine (BetaPower, Dupont Nutrition) that is commercially available for food uses. This powder will be delivered as capsules containing 0.5 gram of powdered betaine which will be administered as eleven capsules twice per day (6 in the morning, 5 in the evening) for a daily total of 6 grams of betaine.
Primary Outcome Measures
NameTimeMethod
Change in sperm motility from baselineOn day zero, day 10, day 30, day 50 and at the end of the 75 day treatment period

Assessed using Computer-Aided Sperm Analysis methodology

Change in sperm count from baselineOn day zero, day 10, day 30, day 50 and at the end of the 75 day treatment period
Change in sperm mitochondrial function from baselineOn day zero, day 10, day 30, day 50 and at the end of the 75 day treatment period

Using Seahorse biochemical function assessment

Change in sperm ultrastructure from baselineOn day zero, day 10, day 30, day 50 and at the end of the 75 day treatment period

Using light and transmission electron microscopy

Change in sperm choline dehydrogenase concentration from baselineOn day zero, day 10, day 30, day 50 and at the end of the 75 day treatment period

Assessed by Western Blot analysis

Change in sperm betaine concentration from baselineOn day zero, day 10, day 30, day 50 and at the end of the 75 day treatment period
Secondary Outcome Measures
NameTimeMethod
Change in blood urea nitrogen concentration from baselineAt 0, 10, 30, 50, and 75 days on treatment
Change in aspartate transaminase concentration from baselineAt 0,10, 30, 50, and 75 days on treatment
Change in lactic dehydrogenase concentration from baselineAt 0, 10, 30, 50, and 75 days on treatment
Betaine intakeAt screening and every 21 days during the study

Assessed using 3-day food records

Change in complete blood count from baselineAt 0, 10, 30, 50, and 75 days on treatment
Change in uric acid concentration from baselineAt 0, 10, 30, 50, and 75 days on treatment
Change in alkaline phosphatase concentration from baselineAt 0, 10, 30, 50, and 75 days on treatment
Change in bilirubin concentration from baselineAt 0, 10, 30, 50, and 75 days on treatment
Change in creatinine concentration from baselineAt 0, 10, 30, 50, and 75 days on treatment
Change in urinalysis parameters from baselineAt 0, 10, 30, 50, and 75 days on treatment

Trial Locations

Locations (1)

UNC Nutrition Research Institute

🇺🇸

Kannapolis, North Carolina, United States

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