AlzheimersResearch UK (February 28, 2023) – In this video, Prof Nick Fox, Director of the Dementia Research Centre at UCL (and specialist in familial Alzheimer’s disease) answers frequently asked questions about getting a genetic test for dementia.
Video timeline:0:00 Start 0:01 #1.What is the difference between dementia risk genes and rare familial genes? 1:05 #2.Which genes are tested for? 1:45 #3.What happens in families with directly inherit dementia? 3:20 #4.What are the common misconceptions? 4:14 #5.Do I need to know which gene runs in my family? 9:50 #6.How do I get a genetic test for dementia? 11:09 #7.What if my doctor won’t refer me for the test? 11:56 #8.Will getting my results affect my life insurance or mortgage?
Having a test to look for a faulty gene that causes dementia is only appropriate for a very small number of people. This is because only around one in 100 cases of dementia are directly inherited. In these cases, there is an obvious pattern of a parent passing it on to their child (or children) throughout every generation of a family, often developing symptoms in their 40s and 50s.
“Many health conditions have a genetic link,” says Breanna Mitchell, a genetic counselor at Mayo Clinic Health System in Eau Claire. “Genetic testing can help you and your health care team understand if you have an increased risk for developing certain conditions that are present in your family. If you are at risk, you may be able to take preventive measures to decrease your risk or undergo genetic testing to clarify your risk.”
Mayo Clinic (February 6, 2023) – Your genes play a role in nearly all areas of your health. A gene is like an instruction manual for your body that tells your body how to function, develop and stay healthy. People have about 20,000 genes in their bodies.
Here are nine common questions about genetic testing:
Do all types of cancers have a genetic component?
Most cancers are considered sporadic, meaning the cancer happens randomly or has environmental influences, such as smoking and lung cancer. About 25% of cancers are considered familial. This is when multiple members of a family are affected by cancer. These family members have some shared genetic factors in combination with shared environmental factors that lead to the development of these cancers.
“About 10% of cancers are considered hereditary or have a single specific genetic component that can be tested and increase a person’s risk for developing cancer,” Mitchell says. “Genetic counseling and genetic testing can help determine which category a person’s individual or family cancer falls into. It also can help estimate your risk for developing cancer.”
What types of genes are examined during genetic testing?
You may have an increased risk for some health conditions, including some types of cancer, based on your genes. A genetic test looks for specific harmful gene changes, called mutations or pathogenic variants, that can cause you to develop a genetic condition. Gene changes are like spelling errors within your body’s instruction manual.
Most genetic tests look for changes in a group of genes called a panel. However, testing may look for changes in a single gene when there is a known genetic mutation in your family. The most common genes typically thought of related to cancer risk are BRCA1 and BRAC2. These genes are associated with breast and ovarian cancer. It’s known that changes in other genes can increase risk for these cancers, as well.
There also are gene panels that assess risk for other cancers, such as colorectal, pancreatic, prostate, liver, uterine and endometrial cancers.
When you are low on your thyroid, or hypothyroid, you may feel sluggish, gain weight, and think slowly. When your body produces too much thyroid hormone, and you have hyperthyroidism, you may feel nervous, shake, and lose weight.
During a physical examination, the doctor should palpate, or feel, your thyroid gland, which is in the neck, straddling the wind pipe, below the larynx, or voice box. If it is enlarged or bumpy, there may well be an abnormality, most common of which is a generalized enlargement, usually due to Hashimoto’s thyroiditis, which eventually leads to hypothyroidism, or a low functioning of the thyroid.
Because of its importance, thyroid function is often taken as a screening test.
When there is not enough thyroid hormone in your bloodstream, the pituitary, or master gland increases the TSH, or thyroid stimulating hormone. Less commonly, when the function is excessive, the TSH drops to an excessively low level.
The thyroid panel usually consist of FT4, or free thyroxin, and a TSH, as a counter check.
Sometimes, often in older people, the TSH rises for seemingly no reason, although the FT4 remains normal. The doctor then determines clinically whether or not your thyroid is low and you need to have oral thyroid supplementation.
Result value. Ref. Range.
FT4. 1.03 ng./dL. 0.76 – 1.46 ng./dL
TSH. 12.10. (H). 0.36 – 3.74 uIU/mL.
I am Currently not taking any thyroid supplements. I feel a little fatigued much of the time, but I’m losing, rather than gaining weight, and sometimes I feel pretty peppy. I also have atrial fibrillation, and have had NSVT, which could be worsened by thyroid supplementation. With my age, my physician is comfortable not giving me thyroid, and so am I.
There are three general types of large molecules of which our body is composed. There are PROTEINS, essential components of the Nanomachines that power of our bodies, the CARBOHYDRATES which can form structures, as well as provide and store nutrients, and LIPIDS, which can function as a storehouse of nutrients.
Lipids, unlike carbohydrates and proteins, are essentially nonpolar, that is they have no profusion of charged molecules. The main characteristic of lipids is that they do not dissolve in water, thereby allowing for domains and structures to develop in the cell and beyond.
Cholesterol is a lipid that is essential to our cell membranes, and therefore to life. As people get older, however, cholesterol tends to accumulate and get stored in unwanted places, such as under the lining membranes of blood vessels. In this location, they can cause blockages that threaten the very life for which they are essential.
All of the lipids measured in the comprehensive lipid panel measure lipids in different forms that have different functions and significance in the body. The only one of the lipids that is almost always good, or at least neutral, is the high density lipoprotein, the HDL. The level of this lipoprotein is under genetic control and is increased by EXERCISE and FISH OIL, among other things.
“Good Genes”, healthy diet and exercise will help keep down the bad lipids, especially the LDL, and elevate the main good lipid , HDL.
Coronary artery disease and strokes are the main killers in mid and into later life, and are therefore very important to control. Many people do not seem to have the self-discipline that healthy diet and exercise requires. Fortunately, we have a miracle drug. the HMG- CoA inhibitors, the “statin” drugs, which most people tolerate without the muscle pain and myolysis side effect.
I have taken the statin drugs for years, ever since I discovered my cholesterol was 220, above the optimal level. Fearful of muscle effects, since I am a heavy exerciser, I started out on 1/2 of the lowest dose, 2.5 mg., of Rosuvastatin. This amazingly took my cholesterol level all the way down to 180, and my LDL down below 100, a powerful medication indeed.
My most recent Lipid panel results are below:
Result value. Ref. Range
Triglycerides. 51 mg./dL. <150 mg./dL
Cholesterol. 186 mg./dL. <200 mg./dL
HDL. 90 mg./dL. > 60 mg./dL
LDL direct. 95 mg./dL. <100 mg./dL.
The authorities have lowered the normal range a couple of times during my lifetime. It is true that even lower values than mine show ever more benefit.
It is best to keep your lipids under control with diet and exercise, so stay healthy!
Vitamin D Blood levels are seldom ordered by doctors, or demanded by patients, in spite of the fact that it is the “vitamin of the decade”.
Vitamin D is the sunshine vitamin, since the UVB light normally converts skin cholesterol into vitamin D. The white skin of peoples who migrated into temperate zones such as Europe was very likely a survival factor due to the low amount of sunlight in northern climates compared to the African tropics, and white skin permits increased vitamin D production.
Vitamin D is most famous as the factor that prevents the childhood bone disease “rickets”. The industrial revolution resulted in kids being in factories, getting insufficient sun exposure, and having an epidemic of rickets.
The Covid pandemic resulted in orders of magnitude more deaths among the elderly, especially those in sunless retirement homes. Eventually, vitamin D became implicated in immune deficiency, and the ability to survive Covid.
Vitamin D Is suspected as a factor in multiple sclerosis, tuberculosis, and even seasonal affective disorder, where there is a great increase in depression during the dark months of winter in extreme northern climates.
The NFL, ever striving to keep their players in top physical condition and accelerate recovery from injury, now supplements their players, and, I hear, requires blood levels of 60 ng./ml and above, more when they are injured. Vitamin D thought to improve muscle strength, and the rate of repair in muscle injury.
A lot of studies have failed to show the benefits claimed for vitamin D, but a recent large study from Harvard showed that the beneficial effects of vitamin D occur only among thinner individuals with a BMI of less than 25, which is a shrinking percentage of our population. It seems that already healthy people who are not overweight are the only recipients that can benefit from vitamin D, a fat soluble vitamin, which may be tightly held by the excess fat of overweight people.
Although I am waiting for more and better studies, I obtain yearly vitamin D blood levels. in fact, I was rather worried recently that my 5000 i.u./day supplementation might be excessive. Not so; it came back as 51 ng/mL The normal level is now considered to be above 30 ng/mL. This was determined in part by finding that the parathyroid hormone blood level was elevated with lower levels of vitamin D, and reached normal only at 30 ng.
How much is too much? It has been documented that most lifeguards in the summer have levels above 100.ng/ mL and there has never been Vitamin D toxicity based on with sun exposure as the sole source of elevation in vitamin D level. “
Getting your vitamin D by sun exposure can lead to skin cancers in later life, however, and my opinion is that VITAMIN D BY ORAL SUPPLEMENTATION IS SAFER.
Checking your blood vitamin D level should be done at least twice. Once to check the baseline, and, since most people in our mostly inside, sunscreen-using population will not have an adequate level, a second test to be sure that you are adequately and not excessively, supplemented.
This is a big one, and produces a lot of information.
Your metabolism is the workhorse of your body, and this panel measures certain critical chemicals and waste products that make metabolism and life possible.
Sodium -The main element in the fluid outside your cells. It draws water into vessels, supporting blood pressure. Drinking water is critical to life, and a recent study used the serum sodium as a proxy to indicate whether you are drinking an adequate amount. If the level is below 142 mmol/dl, you are adequately hydrated and your life expectancy is higher.
Potassium – The main element in cells. There is a pump in the membrane of the cell that pumps potassium into the cell, and sodium out, to maintain a critical electrical charge across the cell membrane. Even small deviations in serum potassium can be worrisome.
Chloride – The anion that Electrically balances sodium and potassium. Can be important in acidosis.
Glucose – The major Energy source of the body. Too little, and you pass out. Too much is a long-term stress on the body, as in diabetes.
Carbon dioxide – As bicarbonate, important in adjusting the acidity of fluids outside the cell.
Anion gap – an important check for doctors.
BUN – A Measure of excess protein in the diet, and can be very elevated in kidney disease. I usually have an elevated BUN, because I eat a lot of protein due to my age. My creatinine is always normal.
Calcium – important for bones, and many other processes, including cellular signaling.
Albumin – An important blood protein that supports blood pressure.
Creatinine – A waste product that is used as a measure of kidney function.
AST (SGOT) – A liver enzyme used to measure inflammation of the liver.
ALT (SGPT) – A counter check to the AST.
Estimated GFR – Based on creatinine, it is a measure of kidney function.
Total protein – Includes albumin + the amount of globulin. The latter includes proteins involved in immunity, measured by subtracting the albumin from the total protein.
The metabolic panel is used to give clues to a whole host of diseases such as diabetes, liver disease, Kidney disease, immune deficiencies, endocrine diseases, vitamin and mineral deficiencies, and the like. It is so useful that Medicare pays for it, usually.
The urinalysis is a very good screening test, and therefore often ordered with an annual physical examination. It gives insight into a very vital organ, the kidney.
It is the definitive test for a urinary tract infections, which are very common particularly in women, with their short urethras, and is also very good at reflecting abnormalities in the body of various sorts.
Urine color– very helpful in many conditions, such as liver disease, hemolytic anemia, porphyria, and Homocystinuria. When I had my bladder cancer bleed, the urine was red in color of course.
Clarity – The presence of many small particles, such as white blood cells or bacteria will make the urine cloudy.
Urine specific gravity – Will be high if you’re drinking insufficient water.
Urine pH — Will be out of range in several conditions, such as urine infections and somatic acidosis, which can happen in diabetes.
Urine protein – Gets into the urine in some kidney conditions such as nephrosis.
Urine glucose – Is positive mainly in diabetes, which was very important to follow when I was practicing in order to follow the diabetes. It is still important in the early pick up of diabetes and people that didn’t know they had it. Blood sugars are much more used these days to follow diabetes.
Urine ketones – Can indicate out of control diabetes. Can also Occur with certain very low carbohydrate diets; keto diets are named for this effect.
Urine blood -A counter check to the microscopic examination for red blood cells.
Urine nitrite – Elevated with urinary tract infections, a check on microscopic white blood cells.
Urinary Urobilinogen – Elevated in certain liver diseases.
Urinary leukocytic esterase -A check on urinary white blood cells
Urinary microscopic examination:
Urinary RBC – Elevated in urinary tract bleeding in certain kidney and bladder diseases.
Urinary WBC – Elevated with urinary tract infections
Transitional epithelial cells – Sometimes have significance to doctors
Urinary bacteria – Of course Indicates urinary tract infection
Urinary yeast and hyphae – May indicate a fungal infection.
The urinalysis I obtained when my red urine due to my bladder cancer alarmed me showed Red urine color 30 mg/dL urine proteins, large amount of blood, 10-15 red blood cells, (elevated) and a few bacteria and yeast, a spurious finding.
When you go in for a general physical, assuming that you are well, it is always comforting to have a negative urinalysis, a broad screening test for all kinds of different problems.
“Even more importantly, we’ve shown you can collect the blood drop at home and mail it into the lab,” saidMichael Snyder, PhD, director of the Center for Genomics and Personalized Medicine and senior author on the research, which was published in Nature Biomedical Engineering on Jan. 19.
Unlike finger-prick testing for diabetes, which measures a single type of molecule (glucose), multi-omics microsampling gives data about thousands of different molecules at once.
A single drop of blood can yield measurements for thousands of proteins, fats and other biomarkers, researchers at Stanford Medicine found.
The new approach combines a microsampling device — a tool used to self-administer a finger prick — with “multi-omics” technologies, which simultaneously analyze a vast array of proteins, fats, by-products of metabolism and inflammatory markers.
The vaccine, called Convidecia Air, changes the liquid form of the vaccine into an aerosol using a nebuilzer. The vaccine can then be inhaled through the mouth using the nebulizer machine. The needle-free vaccine “can effectively induce comprehensive immune protection in response to SARS-CoV-2 after just one breath,” Cansino said in a statement.
In July, Chinese scientists published a pre-print study showing that people who received one booster dose of Cansino’s inhaled vaccine after two doses of the inactivated jab from Chinese maker Sinovac developed more antibodies than people who received three Sinovac shots. Four weeks after receiving the inhaled booster, 92.5% of people had developed neutralizing antibodies for Omicron.
Those who got three doses on Sinovac’s jab did not demonstrate any neutralizing antibodies for Omicron, either four weeks or six months after getting a booster.
Spray vaccines will be our best chance to stop Covid.
However, there are two big problems that have to be solved.
The first problem is keeping up with the blitzkrieg mutation capacity that Covid has. Our best chance to do that is with the mRNA technology, which permits vaccine generation with minimal delay. However, mRNA vaccines are too fragile to be suitable for a nasal or oral spray. The particles would be destroyed before they could activate the mucosal immune system.
But it is still possible, using laboratory technology to convert this mRNA into peptides and proteins suitable for use as a spray. Using AI to generate three dimensional shapes, surely a stable molecule of suitable configuration and stability could be eventually generated.
The second appears to have been partially solved by the Chinese, according to the Fortune article, namely getting an injectable vaccine into a suitable form and dose to survive the bodies mucosal clearance mechanisms and enzymes, designed to keep foreign sprays and mists out of the body, in enough concentration to stimulate the mucosal immune system.
Our bodies have developed a parallel Defense system using a unique immunoglobulin, IGA, and special support cells. When stimulated, immunity bristles as a first line of defense to deny incoming viruses entrance to the body. This is what is needed to prevent infection from occurring in the first place, so extremely important for a highly infectious and potentially lethal virus such as Covid.
The Chinese, with their autocratic system, have a better chance of making everybody take this vaccine, even though it requires a cumbersome liquid nebulizer to generate the mist.
Better would be a handheld inhaler, and, hopefully, this is what some dozen pharmaceutical corporations, working on a nasal or inhaled vaccine , are aiming for.
Vaccines are one of the greatest scientific discoveries in human history. They eradicated a disease, smallpox, that killed 300 million people in the 20th Century. They save countless lives every year, protecting against diseases caused by viruses like polio, measles and yellow fever. But some viruses are particularly difficult to target with vaccines.
We need a flu shot every year because the virus mutates so much previous vaccines may no longer be effective. Scientists are closer than ever before to developing what are known as universal vaccines. These vaccines would protect against many variants of a given virus, and potentially against entire virus families. Viruses are constantly mutating, but only some of those mutations are important.
For example, a change in the shape or chemical properties of the spike protein a virus uses to infect a cell could make the virus more transmissible. It could also mean antibodies developed from previous infection or vaccination wouldn’t be able protect against the current virus. But, there are some sites on viruses that don’t mutate as much, or at all. These sites are often vital to the virus’ survival. Scientists are using powerful technologies to identify antibodies that target these sites.
They’re called broadly neutralizing antibodies and are capable of protecting against multiple viral variants. Now, researchers are working to design shots that get our bodies to produce broadly neutralizing antibodies. Meaning someday soon, vaccines for HIV, flu and coronavirus might be enough to effectively ward off these viruses for the better part of a lifetime.
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