Genetic and

Nutritional
Components of
Osteoporosis
By Jessica Kozlosky
 What Is Osteoporosis?

● Low bone mineral density

● More than 2.5 standard deviations
below the healthy average
● Common in the elderly and
especially frequent in older women
 Effects and Consequences

● Significantly increased risk of bone

fractures
● Often occur from mild or moderate
traumas that do not normally cause
fractures
● Fractures reduce patients’ mobility
and ability to safely participate in
everyday activities
● Decreased quality of life
Vitamin D Receptor:
Absorbing Calcium
● Fok1: SNP which replaces cytosine with thymine and
elongates gene by three amino acids
○ Represented by genotypes of FF (normal). Ff (one
replacement), and ff (two replacements)
○ Children with ff absorb 41% less calcium than those
with FF and 17% less than those with Ff
Collagen Type 1 Alpha 1:
Developing Procollagen
● Sp1: SNP that replaces guanine with thymine at
rs1800012
○ Represented by genotypes of SS (normal), Ss (one
replacement) and ss (two replacements)
○ Adult women: Severe osteoporosis and vertebral
fractures 2.97 times more common in women with Ss
and ss genotypes
Estrogen Receptor: Regulating
Estrogen Sensitivity
● Substitution of thymine for cytosine at codon
157
○ Produces TGA stop codon instead of CGA
arginine codon
○ Those with the mutation are susceptible to
the incomplete closure of epiphyseal plates
and to severe osteoporosis
 Parathyroid Hormone Receptor 1:
Regulating Serum Calcium

● Mutations causing overactivity and

hyperparathyroidism
○ Excessive withdrawal of calcium from
bones
Calcium
● Major structural component of bone
● Consuming adequate amounts early in life to reach peak
bone mass during ages 18-30
● Ability for the body to absorb calcium decreases with age
○ Infancy: 80%
○ Teenage years: 50%
○ Old age: 5%
○ Supplements during later life may be necessary to
take in enough calcium
Vitamin D

● Facilitates absorption of calcium

● Supplementation in conjunction with calcium
supplementation can decreases risk of hip
fractures by 30% and fractures overall by 15%
● Vitamin D supplementation alone does not seem
to be beneficial
Vitamin K
● Enhances functioning of proteins
○ Osteocalcin, matrix Gla-protein, and protein
S: Converts glutamate to carboxyglutamate
○ Allows for increased binding to
hydroxyapatite in bone
 Alcohol

● Heavy alcohol consumption:

○ Inhibits the spread of
osteoblasts
○ Induces premature death of
osteocytes
○ Enhances development of
osteoclasts
 Caffeine
● Increases calcium excreted through
urine
● Consuming more than two cups of
coffee or four cups of tea per day
associated with modest increase in
fracture risk
 Dietary Recommendations

● Ideal diets include adequate

amounts of vitamin D, calcium,
and vitamin K.
● Limit caffeine and alcohol
consumption to mild or moderate
amounts
Sample Breakfast and
Morning Snack
Sample Lunch and Afternoon
Snack
Sample Dinner and Evening
Snack
Conclusion
● While osteoporosis is commonly perceived as a
purely dietary disease, it has many genetic
influences
● Genetics may play even more of a role in its
occurrence than diet
● Diets that promote bone growth and maintenance
and limit bone destruction help prevent or delay
the onset of the disease
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