snps Flashcards
MCM6
“MCM6 lies just upstream of the lactase gene and contains a regulatory region that allows for lactase expression (6). Two sites of variation, rs4988235 and rs182549 independently evolved, and a mutation from the more common “wild type” C allele to a T allele causes continued expression of lactase into adulthood (3, 7).
This lactase persistence allele is seen most commonly in those with european caucasian ancestry. In Arab and Northern African populations there is a third MCM6 variant, rs41380347, where the minor allele G allows for lactase persistence in a similar fashion (8).
Swap out dairy, use lactase enzyme
LCT
Lactase gene
Swap out dairy, use lactase enzyme
VDR
The vitamin D receptor (VDR) encoded for by the gene VDR is the receptor for the bioactive form of vitamin D, calcitriol. Vitamin D plays a key role in the absorption of calcium from the gut, which is required for healthy bone formation, muscle, and heart activity as well as numerous other cell functions. When vitamin D binds to VDR the receptor is activated and this initiates the expression of a protein called calbindin. Calbindin binds with calcium and greatly improves the efficiency of its absorption through the gut, and can also hold calcium in the blood for later use 1,2.
Increase VIT D supplement, synergistic micros, fish w bones
CYP1A2
Caffeine metabolism- if snp present, slower metabolizer
Drink less caffeine, drink it earlier in the day to not disrupt sleep
APOE (1-4)
”"”Apolipoprotein E (APOE) transports lipoproteins, vitamins and cholesterol, particularly in the brain and is encoded for by the APOE gene 1.
Apolipoproteins are proteins which bind lipids facilitating their transport through the body. Lipids are typically insoluble in water and so are very difficult to transport in the blood, apolipoproteins bind and surround lipids greatly improving their solubility. APOE is the principal lipid carrier in the brain and central nervous system, ensuring proper neuron formation and action 2.”””
Nattokinase, fiber, fish oil
BHMT
“Betaine-Homocysteine S-Methyltransferase (BHMT) is an enzyme that converts homocysteine into methionine, and is encoded for by the BHMT gene. BHMT functions by replacing a hydrogen atom on homocysteine with a methyl group donated by a betaine molecule (typically trimethylglycine). This activity is normal and is one of two methods, along with methionine synthase, used to provide the body with the essential amino acid methionine 1.”
Increase choline, betaine/trimethylglycine
CBS
“Cystathionine-Beta-Synthase (CBS) is an enzyme which converts homocysteine into cystathionine, the first step of the transsulfuration pathway, and is encoded for by the CBS gene. Homocysteine is the starting molecule of the transsulfuration pathway; CBS converts homocysteine into cystathionine, which is then converted into cysteine by the action of cystathionine-gamma-ligase. This pathway provides a vital source of the amino acid cysteine, but is also the bodies only mechanism for removing sulfur containing amino acids when present in excess 1.”
Increase B6, methionine rich foods
COMT
”"”Catechol-O-methyltransferase (COMT) is an enzyme which inactivates neurotransmitters such as dopamine and epinephrine in the brain, and is encoded for by the COMT gene 1.
COMT plays an important role in inactivating several neurotransmitters including:
Dopamine
Epinephrine
Norepinephrine 2.
Inactivation of these neurotransmitters is important to ensure that the amount that binds to their receptors remain constant and at physiologically normal levels. If these the COMT enzyme works to rapidly, or too slowly, behavioural changes can occur.”””
Increase/Supplement B6, Mg
FTO
“Fat mass and obesity-associated protein (FTO) is an enzyme which interacts with RNA molecules and is thought to influence expression of proteins, it is encoded for by the FTO gene. FTO has been termed the “ob*sity gene” in popular culture due to a variety of studies which described and association between certain SNPs and increased body mass 1.”
Balanced diet? “the exact mechanisms linking SNPs in FTO with obesity are unknown it is not possible to provide targeted nutritional advice.”
GAD1
“Glutamate decarboxylase 1 (GAD1) is an enzyme encoded for by the gene GAD1 which is only expressed in the brain. GAD1 converts glutamtate into γ-aminobutyric acid (GABA). GABA molecules are the chief inhibitory neurotransmitter in the body, responsible for dampening down the nervous system. This dampening of neuronal activity is responsible for creating a sedative effect which promotes sleep, but also helps maintain the deep sleep which is required to wake feeling rested. This important role is well known as many hypnotic drugs used in surgery target GABA receptors. Low GABA levels are often associated with insomnia 1”
Mg, B6, Hops, Passion Flower, calmin herbs and nutrients… limit caffiene
MAOA
”"”Monoamine Oxidase A (MAO-A) is an enzyme which encodes by the MAOA gene. MAO-A catalyses the oxidative deamination (break down) of the neurotransmitters:
Noradrenaline
Adrenaline
Serotonin
Dopamine
It therefore plays an important role in regulating mood. This was discovered by a study that found that mice lacking MAOA show enhanced aggression and altered emotional learning relative to wild-type (normal) animals.
Studies have shown that positive selection has directed the evolution of MAOA in humans and implies that natural selection has actively chosen a new variant in a gene that is intimately associated with behavior1.”””
B2
MTHFR
”"”MTHFR is an enzyme which is encoded by the MTHFR gene and functions to convert 5,10-methylenetetrahydrofolate (MeTHF) to 5-methlytetrahydrofolate (MTHF). Proper MTHFR activity is fundamental to overall good health, as it is responsible for metabolizing dietary folate and folic acid into a variety of other products vital to the synthesis of DNA, RNA and other amino acids 1.
MTHFR forms part of the one carbon pathway which is responsible for converting folate and folic acid into a variety of precursor products which are used to synthesise new DNA, RNA and other amino acids; process which are vital for the cell maintenance and also the production of new, healthy cells 1.
”” Most impactful by slowing enzyme by 70%- the C677T allele”
Supplement 400-800mcg
methylfolate or folinic acid. Avoid folic acid.
MTR
“MTR is responsible for the regeneration of methionine from homocysteine. Methionine synthase (MS) is an enzyme encoded for by the MTR gene 1. MS is a key enzyme in the methionine cycle, which forms part of the wider methylation pathway. MS generates methionine from homocysteine using 5-MTHF as a donor for a methyl group. With a lack of 5-MTHF, as occurs in those with less functional MTHFR, this reaction stalls and leads to an accumulation of homocysteine.
B12 and Zn
PEMT
Phosphatidylethanolamine N-Methyltransferase (PEMT) is an enzyme encoded for by the gene PEMT, which is responsible for the conversion of phosphatidylethanolamine (PE) into phosphatidylcholine (PC) in the liver 1. PC is a key component of the flexible cell membranes which surround every cell in our body 2. Whilst the majority of PC in the body is derived from dietary sources, PEMT is able to synthesise PC directly meaning it is thought to play an important role in providing PC during times of starvation 3. As part of its activity PEMT produces homocysteine, which plays an important role in MTHFR SNP related health issues 4.
Increase Choline, Supp SAM-E, green tea
SOD2
Superoxide dismutase 2, mitochondrial (SOD2) is a potent antioxidant enzyme which is encoded for by the SOD2 gene. SOD2 is one of three SOD enzymes found in humans, and as its name suggests SOD2 is expressed specifically in the mitochondria where it functions to clear superoxide 1. Superoxide is a by-product of the energy generating process which is constantly occurring in occurring in our mitochondria and is biologically very toxic 2. Indeed, it is often used by cells of the immune system to target and kill invading pathogens 3.
Manganese! Also Glutathione, and antioxidants like A, C, E, Zeathin and Leutin
