ABCA1

Protein:

ATP Binding Cassette SAM1

SNP ID:

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ATP Binding Cassette SAM1 (ABCA1) is a protein which acts as a cholesterol pump and is encoded for by the gene ABCA1. ABCA1 is responsible for shuttling cholesterol out of cells into the blood where they can bind with apolipoproteins to form high-density lipoproteins (HDL), sometimes termed “good” cholesterol due to its association with improved heart health. These HDL particles are typically shuttled to the liver for further processing or to be excreted from the body 1.

See: Cholesterol and heart health: what you need to know

There is one SNP in ABCA1 which is associated with poor health outcomes, G66+1594A, with a particularly strong association with age-related macular degeneration (AMD).

G66+1594A

Science Score
Longevity
rsID Number Major Allele Minor Allele Minor Allele Frequency (%)
rs1883025 g a 31

Risk Description

The risk ‘A’ allele of G66+1594A in the ABCA1 gene is associated with an increased risk of developing age-related macular degeneration (AMD), which can lead to a loss of vision, especially central vision. AMD is characterised by the development of inflammation and oxidative stress in the macula part of the retina at the back of the eye which leads to damage of this delicate tissue.

It has been hypothesised that the ‘A’ allele of G66+1594A leads to reduced ABCA1 function. This reduction in function means that rather than cholesterol being secreted out of cells in the macula into the bloodstream it instead accumulates. This accumulated cholesterol is at risk of peroxidation leading to the release of damaging reactive oxygen species or free radicals. These free radicals damage the tissue of the retina leading to a progressive loss of vision 2.

Indirect Nutrients:*

IngredientActive IngredientEffect
Lutein

Lutein is one of over 600 naturally occurring compounds known as carotenoids. These natural pigments are produced by plants to absorb energy from light for use in photosynthesis, whilst also protecting the plant from damage from excessive light 3.

Animals are incapable of synthesizing lutein and so must acquire it from their diet, with dark green plants such as spinach or kale being particularly rich sources. Lutein accumulates in the retina of the eye and is thought to protect the sensitive tissue from damage, whilst also acting as an antioxidant 4.

In those carrying the ‘A’ allele of G66+1594A who are at risk of free radicals being produced in the macula leading to the development of AMD lutein may serve two purposes. To protect against free radical oxidative damage, and to protect against further damage from exposure to light 5.

Zeaxanthin

Zeaxanthin is one of the most common naturally occurring compounds known as carotenoids. These natural plant pigments absorb energy from light for use in photosynthesis, whilst also protecting the plant from damage from excessive light 4.

Animals cannot synthesize zeaxanthin and so must acquire it from their diet, with reddy vegetables and spices such as paprika or saffron being rich sources. Zeaxanthin accumulates in the macula of the retina at the back of the eye and is thought to protect the sensitive tissue from damage, whilst also acting as an antioxidant 6.

In those carrying the ‘A’ allele of G66+1594A who are at risk of free radicals being produced in the macula leading to the development of AMD, and a loss of vision, zeaxanthin may serve two purposes. To protect against free radical oxidative damage, and to protect against further damage from exposure to light 7.

Vitamin C Ascorbic acid

Vitamin C is a potent antioxidant which can protect against oxidative stress induced by free radicals 8.

Those carrying the ‘A’ allele of G66+1594A, are at risk of free radicals being produced as a result of cholesterol accumation in the macula leading to the development of AMD, and a loss of vision. As an antioxidant vitamin C is well placed to prevent damage to the delicate tissue of the retina and prevent or delay the onset of AMD 7.

Vitamin E α-tocopherol

As with vitamin C above vitamin E is a potent antioxidant 9, especially for lipid derived free radicals.

For those carrying the ‘A’ allele of G66+1594A, who are at risk of free radical driven AMD, vitamin E may prevent or limit the onset of the disease 7.

Discuss this information with your doctor before taking any course of action.

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