Diamond
Blackfan
anaemia 2013
•
A Nutritional point of
view
•By Diana Wright
•BSc Hons Dip ION
•
By PresenterMedia.com
Why a nutritional approach?
•
•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
food
is more than just
•Nutrigenomics-emerging
evidence
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?
•
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??
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
•
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 acid test results
•
•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 buildup, 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.
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. ?
•
So its now 2013-what next ?
•Is
there a link between genetics, biochemical
pathways and nutrition
•We
can increasingly identify specific genetic
mutations called SNP’S
•Nutrigenomics-the
expression
•So
•Is
affect of nutrition on genetic
what can it tell us?
DBA a multifactorial condition, with genetic,
•infectious,
and environmental contributors. ?
Lets discuss a Nutritional approach
•Nutrigenomics
•Gut
and methylation
dysbiosis and digestion
•Leaky
gut
•Heavy
metal toxicity
•Immune
system
•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
•
NUTRIGENOMICS IS
GENETICALLY TARGETED DIET
AND SUPPLEMENTATION
METHYLATION SWITCHES
GENES ON AND OFF
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
NUTRIGENOMICS IS
GENETICALLY TARGETED DIET
AND SUPPLEMENTATION
METHYLATION SWITCHES
GENES ON AND OFF
METHYLATION IS A KEY
PROCESS IN MAKING NEW
DNA
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 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
•
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.
•
Homocysteine
•
Homocysteine
•
•Why is this relevant to DBA?
•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
•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
Processes that methylation is
involved in
•
•Repairing
and building RNA and DNA
•Immune
function (how your body
responds to and fights infection)
•Digestive
•DNA
Issues
•Metal
balance
•Inflammation
•Energy
•Protein
fluidity
production
activity
•Anxiety
•Arthritis
•Bipolar
Detoxification
•Membrane
reactions
•Autism
silencing
•Neurotransmitter
•Allergic
•Bowel
disorder
dysfunction
•Chronic
bacterial infections
•Chronic
viral infections
•Language
and cognition impairment
•Leaky
gut
•Metal
toxicity
•Mitochondrial
•Sleep
disease
disorders
So, what more can we do
nutritionally?
•
GUT DYSBIOSIS
•Bacterial
imbalance
•Parasites
•Poor
LEAKY GUT
•Low
SIGA
•Yeast
sulfation
•Inflammation
of gut lining
IMMUNE SYSTEM
TOXIC METALS
Eczema
•Joint pains
•Allergies
• Inflammation
•From industrial and
agricultural waste
•In inhalants
•Lead, cadmium, mercury
and arsenic
•
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 formation
How 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
•
•LEAKY
GUT
decreased methylation causes decreased
glutathione
streptocccus can increase intestinal
membrane permability
leaky gut depletes glutathione
depleted glutathione increases oxidative
stress
•INFLAMMATION
•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
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 stressageing 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
•Reuben’s
treatment
•How
got high FIGLU normal MMA
results went back to normal in 2years of
are Monty’s levels now????
•So
•It
you don’t think food matters?
does!
•We
see multiple factors coming
together to help create health
inbalances
A simple protocol
•
•Replace
enzymes
•Repair
digestive
gut lining
•Restore
immunity
•Replenish
bacteria
with good
•Organic
•Water
•Fresh
food
not coke
not processed
•Vegetables
not snacks
•fruits
not sugar
•Colour
white
not
STOP, TAKE CARE AND GO FOODS
•
VARIETY – THE SPICE OF LIFE
•
•80%
of food intake comes from just 11
foods.
•Increasing
increases
the number of foods
the variety of nutrients obtained
naturally
•Lead
by example
•Include
your child in choice and
preparation of foods
AN IDEAL DIET FOR CHILDREN
•
•70%
•for
Complex Carbohydrates
energy production
•vegetables,
•30%
•for
fruit, grains, beans, pulses and seeds
Protein
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?
•
BUT – how do you get children to eat them?
•Start
early and keep quantities small
•Choose
•Cherry
•Hide
tomatoes, peas, carrots, sweet potatoes
them in omelettes, pizzas, rice etc
•Grate
•Use
colourful and sweet
into purees, soups and sauces
vegetarian main courses
•Offer
as a first course while your child is hungry
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
•High
cancer because contains indoles
in iron (energy)
•Brown
•High
rice
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
•Good
for healthy skin (Vitamin A)
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,
•Helpful
•Helps
anti-bacterial, anti-fungal (active compounds)
against asthma, anaemia, arthritis (support the liver)
to detoxify pollutants
•Papaya
•Rich
and pineapples
in enzymes which are beneficial
for digestion of proteins
•Clean
up dead tissue in the gut wall
•Olive
oil
•Protects
•Is
against heart disease
high in antioxidants
•Aids
•Bio
digestion and helps prevent constipation
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
•Good
for blood sugar balance
•Provides
•Oily
Vitamins B & E, calcium, magnesium, potassium and silicon
fish, nuts and seeds
•Contain
•For
cholesterol and blood fats
essential fatty acids
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
•Additive
or chicken nuggets
free fish fingers
•Quickie
•3
dips and salads
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
•
BE POSITIVE!
•Happy
•Don’t
meal times
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