This 222 bp is in-frame with the coding sequences from exons 1–2 and is predicted to produce a novel CCDC78 variant with an additional 74 amino acids. The Following are the Extra Sequence of Amino Acids for the CCDC78 Pathological Mutation.
Branched-Chain Amino Acids are Isoleucine, Valine and Leucine.
Valine & Leucine: Valine promotes muscle growth and tissue repair and Leucine regulates Blood Sugar, growth and repair of muscle tissue and bone growth; growth hormone production and wound healing
*We have an overproduction of Valine and Leucine ???
Valine works solely with Carbohydrates. Leucine solely to fats.
Too much Valine in the diet can also disrupt liver and kidney function and increase the amount of ammonia in the body.
High Valine foods include cheese, soybeans, beef, lamb, chicken, pork, nuts, seeds, fish, beans, mushrooms, and whole grains.
High amounts of Leucine can cause ammonia buildup in the body. Too much ammonia circulating in the blood can cause tissue damage to the organs. The kidneys and liver are mainly susceptible to the toxicity of ammonia, because they aid the body by filtering excess ammonia into the bloodstream. High levels of Leucine can cause a decrease in vitamin B3 or niacin in the body.
It can lead to hypoglycemia or low blood sugar levels in some people because of their potential to cause insulin to be produced by the pancreas.
It can cause effects such as nausea, vomiting, upset stomach and diarrhea.
Foods that contain Leucine
Servings of one ounce (28.7 grams) of foods that contain more Leucine, are:
Isolated soy protein , 1.9 grams (g) of leucine (Leu)
Beef and pork , 0.7 g of Leu
Cheddar cheese , 0.7 g of Leu
Tuna , 0.5 g of Leu
Chicken and turkey , 0.4 g Leu.
Cottage cheese and eggs , 0.4 g Leu
Yogurt , 0.2 g of Leu
Lentils, black beans and pinto beans , 0.2 g Leu
*We lack one of the elements of the BCAA Amino Acid - Isoleucine ??? which is responsible for wound healing, detoxification of nitrogenous wastes, stimulating immune function, and promoting secretion of several hormones.
*Isoleucine is found in meats, fish, cheese, eggs, and most seeds and nuts.
Branched-chain amino acids compete with the amino acid tryptophan for entry into the brain, where tryptophan can be converted to the neurotransmitter serotonin.
*We have an overproduction of Tryptophan ???
Tryptophan is an essential amino acid that is necessary for normal growth in infants and for NITROGEN balance in adults. Metabolism of tryptophan into serotonin requires nutrients such as vitamin B6, niacin, and glutathione. Niacin (also known as vitamin B3) is an important metabolite of tryptophan
*Too Much tryptophan has been linked to a near fatal condition called EMS - Eosinophilia–myalgia syndrome (EMS), a chronic multisystem disorder first recognized in 1989, is characterized by subacute onset of myalgias and peripheral eosinophilia associated with chronic muscle, nerve, fascia, and skin involvement
Eosinophilia is a condition in which the eosinophil count in the peripheral blood exceeds 5.0×108/l (500/μL).histopathologic examination is diagnostic for tissue eosinophilia
Eosinophils usually account for less than 7% of the circulating leukocytes. A marked increase in non-blood tissue eosinophil count noticed upon histopathologic examination is diagnostic for tissue eosinophilia
Tryptophan is Found in the Following Foods:
L-tryptophan*(mg) Sum of CAAs** (mg) Ratio
Turkey, Skinless, Boneless, Light Meat (per pound, raw) 410 9,525 0.043
Chicken, Skinless, Boneless, Light Meat (per pound, raw) 238 5,122 0.046
Turkey, Skinless, Boneless, Dark Meat (per pound, raw) 303 7,036 0.043
Chicken, Skinless, Boneless, Dark Meat (per pound, raw) 256 5,492 0.047
Whole Milk (per quart) 732 8,989 0.081
2% Milk (per quart) 551 12,516 0.044
Wheat Bread (per slice) 19 317 0.06
White Bread (per slice) 22 439 0.05
Semisweet Chocolate (per ounce) 18 294 0.061
Sweet Chocolate (per ounce) 16 270 0.059
Canned Tuna (per ounce) 472 10,591 0.045
Cheddar Cheese (per ounce) 91 2,298 0.04
Peanuts (per ounce) 65 1,574 0.041
Oats for Oatmeal (per cup) 147 2,617 0.056
Dried Prune (one) 2 27 0.074
Banana (one medium) 11 237 0.046
Apple (one medium) 2 70 0.029
*e.g. The recommended daily allowance for a 79 kg (175 lb) adult is 278 to 476 mg
**CAAs = Isoleucine, Leucine, Phenylalanine, Tyrosine, and Valine, the five large neutral amino acids typically included in the tryptophan/CAA ratio.
*We have an overproduction of Alanine ???.
Alanine is a non-essential Amino Acid. This means it is made by the human body and not essential to the Human Diet.
*Too much Alanine present in your body, you can get rid of it. Unfortunately this means a short lived bout of diarrhoea. While unpleasant, this is not a dangerous side effect and passes quickly
Alanine is an important source of energy for muscles and central nervous system, strengthens the immune system, helps in the metabolism of sugars and organic acids, and displays a cholesterol-reducing effect in animals
*We have an overproduction of Glutamine ???.
Glutamine is a non-essential Amino Acid. This means it is made by the human body and not essential to the Human Diet. Glutamine is a building block of protein and critical part of the immune system and intestinal health.
*Too much Glutamine may cause itching or a rash, sweating more often, swelling in your feet or hands, pain in your back or other muscles or joints, feeling dizzy or tired, headache, runny nose, dry mouth, stomach pain, gas, vomiting or nausea
*We have an overproduction of Glutamic acid ???.
Glutamic acid is a non-essential Amino Acid. This means it is made by the human body and not essential to the Human Diet.
Glutamic acid stimulates the nerve cells in the central nervous system. Glutamic acid is needed for the proper functioning of the immune system, digestive tract and muscle cells.
An excess of glutamic acid from supplements may cause overstimulation of nerve receptors and contribute to neurological disorders
Excessive glutamate release is also one of the main reasons that people have brain damage after strokes
*We have an overproduction of Histidine ???.
Histidine. is a semi-essential amino acid (children should obtain it from food) needed in humans for growth and tissue repair.
Histidine is important for maintenance of myelin sheaths that protect nerve cells and is metabolized to the neurotransmitter histamine
Too high levels of histidine may lead to stress and mental disorders such as anxiety. Too much histidine will actually cause constipation
High histidine foods:
beef, lamb, cheese,pork, chicken, turkey, soy, fish, nuts, seeds, eggs,beans, and whole grains.
The recommended daily intake of histidine is 10mg per kilogram of body weight or 4.5mg per pound
The enzyme Histidine decarboxylase produces histamine from the amino acid Histidine.
Histamine-rich foods that you should try to avoid:
Fermented milk products: yogurt, kefir, bleu cheese and aged cheeses
Shellfish: smoked, canned, fresh or frozen
Processed, cured, or smoked meats: bacon, sausages, pepperoni, smoked/cured ham, etc.
Citrus fruits: oranges, lemons, limes, grape fruits
Strawberries
Tomatoes and tomato products
Artificial food colorings and preservatives
Aged drinks: like red wine, cider, kombucha
Foods that don’t contain high amounts of histamine:
Fresh meat and fish, fresh chicken, and cage-free eggs.
Safe starches like rice, rice noodles, potatoes, vermicelli or sweet potato noodles.
Increase healthy fats and natural oils like coconut oil, extra virgin olive oil, avocado oil and butter.
Have lots of leafy vegetables, fresh fruits (not citrus or berries).
If you can tolerate dairy, opt for the non-fermented kinds like ricotta, cream cheese, whole milk and whole cream.
*We have an overproduction of Glycine ???.
This amino acid is essential for many different muscles, cognitive and metabolic functions.
Used to treat Schizophrenia; Enhances Wound Healing; Treating Strokes.
Glycine/gelatin rich foods are thick broth, pork skins, Plant-based sources include beans; vegetables like spinach, kale, cauliflower, cabbage and pumpkin; plus fruits like banana and kiwi.
*Too much Glycine can cause upset stomach, soft stools, nausea, and vomiting
*We have an over production of Phenylalanine ???.
Phenylalanine is an essential aromatic amino acid that is a precursor of MELANIN; DOPAMINE; noradrenalin (NOREPINEPHRINE), and THYROXINE
When present in sufficiently high levels, phenylalanine can act as a neurotoxin and a metabotoxin. A neurotoxin is a compound that disrupts or attacks neural cells and neural tissue.
A metabotoxin is an endogenously produced metabolite that causes adverse health effects at chronically high levels. Chronically high levels of phenylalanine are associated with at least five inborn errors of metabolism
High plasma concentrations of phenylalanine influence the blood-brain barrier transport of large neutral amino acids.
The high plasma phenylalanine concentrations increase phenylalanine entry into the brain and restrict the entry of other large neutral amino acids
Phenylalanine has been found to interfere with different cerebral enzyme systems
Phenylalanine can act as an effective pain reliever
Phenylalanine and tyrosine, like L-DOPA, produce a catecholamine-like effect; hysiological changes that prepare the body for physical activity (fight-or-flight response).
Some typical catecholamine-like effect are: increases in heart rate, blood pressure, blood glucose levels, and a general reaction of the sympathetic nervous system.
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