•Diamond Blackfan anaemia 2013

•A Nutritional point of view•By Diana Wright•BSc Hons Dip ION

By PresenterMedia.com

•I think there is more to DBA than meets the eye

•I think nutrition can make a difference

•I think we can look at nutrigenomics as a way forward

•I think there are similarities with the biochemistry of autism

•I am going to shine a torch onto DBA to look at it in a different light looking at paths of investigation that could be considered

•Why a nutritional approach?

•DBA- a multifactoral condition?

•Nature, nuture-does the environment make a difference?

•Nutrition is more than just food

•Nutrigenomics-emerging evidence

•Why a nutritional approach?

•Questions from last time ;2009

•Does Leucine offer the prospect of stimulating the metabolic processes which make red blood cells (erythropoiesis)?•Isoleucine-does it have a part to play?•Can this be affected by diet or supplementation?•Can genetic expression be modulated in this way?

•Should we also be looking at folic acid and B12 deficiencies as well as amino acids isoleucine and leucine?

•What about the vitamins that are needed as co factors for utilisation of branch chained amino acids? ie B6and B5, thiamin, riboflavin, niacin and lipoic acid.

•Is it a bigger picture than just amino acids??

•Questions from last time ;2009

•Does Leucine offer the prospect of stimulating the metabolic processes which make red blood cells (erythropoiesis)?

•Isoleucine-does it have a part to play?

•Can this be affected by diet or supplementation?

•Can genetic expression be modulated in this way?

•Are there any other factors such as insufficient digestion of proteins by stomach acid, gastric and pancreatic enzymes to consider?

•Is Optimum nutrition worth it?

•Is there a protocol to follow at this stage?

•What further research is required?

•Questions from last time ;2009

•Should we also be looking at folic acid and B12 deficiencies as well as amino acids isoleucine and leucine?

•What about the vitamins that are needed as co factors for utilisation of branch chained amino acids? ie B6and B5, thiamin, riboflavin, niacin and lipoic acid.

•Is it a bigger picture than just amino acids??

•What about digestion

•Questions from last time ;2009

•Questions from last time ;2009

DBA

•So WHAT do we know and is there any more?

•Is DBA a multi factorial condition?

•This is what we see so far from a nutritional basis

•Organic acids are metabolic intermediates produced in pathways of central energy production, detoxification, neurotransmitter breakdown, and intestinal microbial activity. Accumulation of specific organic acids in urine often signals a metabolic inhibition or block. This abnormality may be due to a nutrient deficiency, an inherited enzyme deficit, toxic build-up, or drug effect. Testing for organic acids helps reveal activity and changes at the metabolic level, helping discover hidden issues and pinpoint where therapeutic focus is needed.

•Organic acid test results

•Hair test –mineral and toxic metal analysis

•So its now 2013-what next ?

•A link between genetics, biochemical pathways and nutrition•Can identify specific genetic mutation called SNP’S•Nutrigenomics-what can it tell us?•How is it relevant?•Is DBA a multifactorial condition, with genetic,•infectious, and environmental contributors. ?

•Is there a link between genetics, biochemical pathways and nutrition

•We can increasingly identify specific genetic mutations called SNP’S

•Nutrigenomics-the affect of nutrition on genetic expression

•So what can it tell us?

•Is DBA a multifactorial condition, with genetic,

•infectious, and environmental contributors. ?

•So its now 2013-what next ?

•Gut dysbiosis and digestion

•Leaky gut

Lets discuss a Nutritional approach

•Nutrigenomics and methylation

•Heavy metal toxicity

•Immune system

METHYLATION SWITCHES GENES ON AND OFF

NUTRIGENOMICS IS GENETICALLY TARGETED

DIET AND SUPPLEMENTATION

METHYLATION IS A KEY PROCESS IN MAKING

NEW DNA

•Nutrigenomics

• Nutrigenomics is study of how we can change the way our genes act.•For example, certain foods or supplements prompt our genes to act in healthy or unhealthy ways.•Through the study of Nutrigenomics, scientists are learning what to eat (or to avoid) to promote healthy vs. unhealthy “genetic expression.”•Genetic expression = How our genes act

METHYLATION SWITCHES GENES ON AND OFF

NUTRIGENOMICS IS GENETICALLY TARGETED

DIET AND SUPPLEMENTATION

METHYLATION IS A KEY PROCESS IN MAKING

NEW DNA

•Methylation

•Methylation is key biochemical process in making DNA and RNA and is involved in red blood cell formation.•Methyl groups are the body’s messengers and movers and shakers•When the methyl group is removed, the reaction stops or a gene is turned off or the enzyme is deactivated, and visa versa•B6, B12 and folic acid are vital nutrients for keeping the body’s balance in credit for methyl grps

Methyl Messengers Methyl groups are the body’s messengers and movers and shakers. They join with other compounds to “jump-start” a reaction (such as turning a gene on or activating an enzyme). When the methyl group is “lost” or removed, the reaction stops (or a gene is turned off or the enzyme is deactivated), OR when a methyl group is lost a gene is turned on (for example, a gene related to cancer) when it is not ideal to have it turned on.

•Methylation

From the last conference I highlighted the poor functioning of the methylation cycle in all but one of the case studies together with low B12 and folic acid levels. Methylation is key in making DNA and RNA and is involved in red blood cell formation. Reference 1 -

•What makes the methylation cycle so unique and so critical for health is that mutations in this pathway can have an impact on SO MANY HEALTH ISSUES .•Picture each mutation as an accident causing a traffic tie-up. Through targeted NUTRITION we are in effect creating a way for a vehicle to bypass the sites where the accidents have occurred, In the case of the methylation to produce and deliver the methyl groups that are key to a wide range of bodily functions.

•Methylation

•Homocysteine

•Homocysteine

•Methylation is vital in the synthesis of DNA.•DNA carries the blueprint, or genetic coding, needed to build the components of living organisms INCLUDING the making of red blood cells•Without a functioning methylation cycle, your DNA is not going to replicate properly

•Why is this relevant to DBA?

•One extremely crucial function of methylation is its role in the synthesis of DNA. DNA carries the blueprint, or genetic coding, needed to build the components of living organisms.

•without a functioning methylation cycle, your DNA is not going to replicate properly

•DNA is composed of building blocks called nucleotides, chemical compounds that contain four bases—cytosine, guanine, adenine, and thymidine. Several of the enzymes involved in the creation of these bases are a part of the methylation cycle.

•So, what else would dysfunctional methylation cause?

•Lets take a closer look

•Allergic reactions

•Anxiety

•Arthritis

•Autism

•Bipolar disorder

•Bowel dysfunction

•Chronic bacterial infections

•Chronic viral infections

•Language and cognition impairment

•Leaky gut

•Metal toxicity

•Mitochondrial disease

•Sleep disorders

•Repairing and building RNA and DNA

•Immune function (how your body responds to and fights infection)

•Digestive Issues

•DNA silencing

•Neurotransmitter balance

•Metal Detoxification

•Inflammation

•Membrane fluidity

•Energy production

•Protein activity

•Processes that methylation is involved in

•Bacterial imbalance

•Parasites

•Poor sulfation

•Inflammation of gut lining

GUT DYSBIOSIS

LEAKY GUT•Low SIGA

•Yeast

•From industrial and agricultural waste•In inhalants•Lead, cadmium, mercury and arsenic

TOXIC METALSIMMUNE SYSTEM

•Eczema•Joint pains•Allergies• Inflammation

•So, what more can we do nutritionally?

TOXIC METALS•Methyl groups are used for detoxification•But environmental toxins disrupt methylation that is needed for detoxification and so creates a toxic catch-22•This depletes glutothione which is a vital antioxidant manufactured from methylation•Toxic metals like aluminium decrease mitochondrial dysfunction.•Aluminium also disrupts the Krebs cycle•Cadmium from smoking inhibits methylation of cellular membrane function•Arsenic , nickel and chromium can cause over methylation of DNA resulting in turning OFF genes•Lead interferes with blood formationHow does that affect DBA?

•GUT DYSBIOSIS

•A functional methylation also can help reduce viral and bacterial load•higher bacterial loads retains aluminium, so causing dysfunctional mitochondria•further depletes vital antioxidant glutathione , but cannot make more due to dysfunctional mitochondria•Toxic metals causes digestive disturbance•Source of inflammation as many of your immune cells reside in your digestive tract•Causes leaky gut•Allergies•Low methylation, reduces T cells, increases histamine, leads to food sensitivities eg gluten, caesine

decreased methylation causes decreased glutathionestreptocccus can increase intestinal membrane permabilityleaky gut depletes glutathionedepleted glutathione increases oxidative stress

•LEAKY GUT

•Methylation is vital to silence virus’s

•Undermethylation contributes to several kinds of inflammation in your body, heart, autoimmune, neurological one reason being to low glutathione

•INFLAMMATION

IS FOLIC ACID DEFICIENCY CONTRIBUTING TO DBA?

•Folic acid is necessary in methyl group transfer ie methylation found low in Anna

•This feeds the constant demand for glutathione which is a powerful antioxidant which fights oxidative stress-ageing and disease promoting

•Signs of folic acid deficiency is cellular malfunction and cellular death

•The most susceptible tissue is bone marrow, owing to the constant high demand for replenishment of mature erythrocytes

•Anaemia is the end stage disease of the biochemical lesion resulting from folate deficiency

•FOLIC ACID

•There is a marked increase in demand for the vitamin in the third trimester of pregnancy

•Short term deficiencies may not produce hematological changes in the mother but could contribute to birth defects and genetic changes

•Erythrocyte folate may be used to evaluate deficiency but the deficiency needs to be long term eg 123 day’s

•Formiminoglutamic acid is an intermediate in the degradation of histidine (aa) which accumulates in the later stages of folate deficiency, especially if histadine is administered as an oral load.

•COULD BE A TEST FOR DBA??

•VITAMIN B12

•Vitamin B12 has a very close relationship biochemically with folic acid

•The clinical and hematological results of deficiencies of the two nutrients are indistinguishable.

•A blood test may not be sufficient as it is reported that it may not to be adequate to saturate vitamin B12 requiring enzymes to carry out essential metabolic function.

•Urine MMA (methylmalonate) is a more sensitive marker

•Applied to tests carried out on the children;

•Anna and Reuben both showed high levels of FIGLU in their test results

•Anna has High MMA

•Anna’s other marker’s for folic acid deficiency have improved but MMA and FIGLU is still high

•Sechant had no abnormal FIGLU or MMA

•Monty-Has got high FIGLU normal MMA

•Reuben’s results went back to normal in 2years of treatment

•How are Monty’s levels now????

•So you don’t think food matters?

•It does!

•We see multiple factors coming together to help create health inbalances

•Replace digestive enzymes

•Repair gut lining

•Restore immunity

•Replenish with good bacteria

•Vegetables not snacks

•fruits not sugar

•Colour not white

•A simple protocol

•Organic food

•Water not coke

•Fresh not processed

•STOP, TAKE CARE AND GO FOODS

•VARIETY – THE SPICE OF LIFE•80% of food intake comes from just 11 foods.

•Increasing the number of foods increases

the variety of nutrients obtained

naturally

•Lead by example

•Include your child in choice and preparation of foods

•AN IDEAL DIET FOR CHILDREN

•70% Complex Carbohydrates

•for energy production

•vegetables, fruit, grains, beans, pulses and seeds

•30% Protein

•for growth, and muscle and hormone production

•fish, meat, dairy products and added fat

•Water – we are 80% water. It is

necessary to ‘flush out’ toxins

•FRUIT AND VEGETABLES – WONDERFOOD?

•Start early and keep quantities small

•Choose colourful and sweet

•Cherry tomatoes, peas, carrots, sweet potatoes

•Hide them in omelettes, pizzas, rice etc

•Grate into purees, soups and sauces

•Use vegetarian main courses

•Offer as a first course while your child is hungry

BUT – how do you get children to eat them?

•Why Fruit And Vegetables?•Apples

•High in Vitamin C – increases immunity

•High in Pectin – aids detoxification

•Works to lower cholesterol by up to 10%

•Neutralises excess acid

•Avocados

•High in potassium

•They are rich in folic acid , vitamin K, and are good dietary sources of vitamin B6, vitamin C, vitamin E and B5

•Broccoli

•Fights cancer because contains indoles

•High in iron (energy)

•Brown rice

•High in iron, magnesium, Vitamins E and B6

•Contains gamma oryzanol for health of the gut

•Carrots

•High in Vitamin C - immunity

•Helps respiratory system (Vitamin A)

•Essential for healthy skin (Vitamin A)

•Good for eye function (Vitamin A)

•Flax oil

•Rich in essential fatty acids which reduces

•Inflammation and therefore decreases allergies

•Important far nerve and brain function because contains EPA/DHA

•Important for hormone balance

•Garlic and onions

•Anti-viral, anti-bacterial, anti-fungal (active compounds)

•Helpful against asthma, anaemia, arthritis (support the liver)

•Helps to detoxify pollutants

•Papaya and pineapples

•Rich in enzymes which are beneficial

for digestion of proteins

•Clean up dead tissue in the gut wall

•Olive oil

•Protects against heart disease

•Is high in antioxidants

•Aids digestion and helps prevent constipation

•Bio yoghurt

•Helps maintain bacterial balance in the colon

•Helps protect against bowel cancer

•Grapes

•Has cleansing properties

•Useful for gout and rheumatism

•Regenerative for fatigue as contains fructose

•Oats

•Reduces cholesterol and blood fats

•Good for blood sugar balance

•Provides Vitamins B & E, calcium, magnesium, potassium and silicon

•Oily fish, nuts and seeds

•Contain essential fatty acids

•For brain structure and nerve messages

•Improves cardiovascular health by

reducing cholesterol

•FAST FOOD NOT JUNK FOOD•Humus in pitta bread

•Baked beans

•Frozen peas

•Tuna mayonnaise

•Omelettes

•Sausages

•Vegetable or chicken nuggets

•Additive free fish fingers

•Quickie dips and salads

•3 bean salad

•Guacamole

•Coleslaw

•Fresh soup (cartons)

•Pasta, rice and baked potatoes

•Toasted sardines

•GOOD FOOD ON A BUDGET

•Pulses and grains e.g. red lentils in

stews and bolognaise

•Vegetables and fruit in season

(from the market)

•Mackerel, and sardines

•Casserole cheaper cuts of lean meat with pulses, grains and veg e.g. neck

of lamb with pearl barley

•Use your freezer where possible

•FOOD FADS

•Happy meal times

•Don’t worry if your child won’t eat – don’t fuss

•Children have different appetites at

different growth times

•Do not give junk food to tempt

your child to eat

•Do not give in to cravings for saltier and sweeter foods

•Check they are not unwell

BE POSITIVE!