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If a genetic disorder runs in my family, what are the chances that my children will have the condition?

5 years, 8 months ago

When a genetic disorder is diagnosed in a family, family members often want to know the likelihood that they or their children will develop the condition. This can be difficult to predict in some cases because many factors influence a person’s chances of developing a genetic condition. One important factor is how the condition is inherited. For example:

Autosomal dominant inheritance: A person affected by an autosomal dominant disorder has a 50 percent chance of passing the mutated gene to each child. The chance that a child will not inherit the mutated gene is also 50 percent (illustration).

Autosomal ... ..more

ag5zfnJlc291cmNlLXFuYXITCxIGQW5zd2VyGICAgIDXkN4KDA Genetics & Health Question: If a genetic disorder runs in my family, what are the chances that my children will have the condition? Answer: When a genetic disorder is diagnosed in a family, family members often want to know the likelihood that they or their children will develop the condition. This can be difficult to predict in some cases because many factors influence a person’s chances of developing a genetic condition. One important factor is how the condition is inherited. For example: Autosomal dominant inheritance: A person affected by an autosomal dominant disorder has a 50 percent chance of passing the mutated gene to each child. The chance that a child will not inherit the mutated gene is also 50 percent (illustration). Autosomal recessive inheritance: Two unaffected people who each carry one copy of the mutated gene for an autosomal recessive disorder (carriers) have a 25 percent chance with each pregnancy of having a child affected by the disorder. The chance with each pregnancy of having an unaffected child who is a carrier of the disorder is 50 percent, and the chance that a child will not have the disorder and will not be a carrier is 25 percent (illustration). X-linked dominant inheritance: The chance of passing on an X-linked dominant condition differs between men and women because men have one X chromosome and one Y chromosome, while women have two X chromosomes. A man passes on his Y chromosome to all of his sons and his X chromosome to all of his daughters. Therefore, the sons of a man with an X-linked dominant disorder will not be affected, but all of his daughters will inherit the condition (illustration). A woman passes on one or the other of her X chromosomes to each child. Therefore, a woman with an X-linked dominant disorder has a 50 percent chance of having an affected daughter or son with each pregnancy (illustration). X-linked recessive inheritance: Because of the difference in sex chromosomes, the probability of passing on an X-linked recessive disorder also differs between men and women. The sons of a man with an X-linked recessive disorder will not be affected, and his daughters will carry one copy of the mutated gene (illustration). With each pregnancy, a woman who carries an X-linked recessive disorder has a 50 percent chance of having sons who are affected and a 50 percent chance of having daughters who carry one copy of the mutated gene (illustration). Codominant inheritance: In codominant inheritance, each parent contributes a different version of a particular gene, and both versions influence the resulting genetic trait. The chance of developing a genetic condition with codominant inheritance, and the characteristic features of that condition, depend on which versions of the gene are passed from parents to their child (illustration). Mitochondrial inheritance: Mitochondria, which are the energy-producing centers inside cells, each contain a small amount of DNA. Disorders with mitochondrial inheritance result from mutations in mitochondrial DNA. Although these disorders can affect both males and females, only females can pass mutations in mitochondrial DNA to their children. A woman with a disorder caused by changes in mitochondrial DNA will pass the mutation to all of her daughters and sons, but the children of a man with such a disorder will not inherit the mutation (illustration). It is important to note that the chance of passing on a genetic condition applies equally to each pregnancy. For example, if a couple has a child with an autosomal recessive disorder, the chance of having another child with the disorder is still 25 percent (or 1 in 4). Having one child with a disorder does not “protect” future children from inheriting the condition. Conversely, having a child without the condition does not mean that future children will definitely be affected. Although the chances of inheriting a genetic condition appear straightforward, factors such as a person’s family history and the results of genetic testing can sometimes modify those chances. In addition, some people with a disease-causing mutation never develop any health problems or may experience only mild symptoms of the disorder. If a disease that runs in a family does not have a clear-cut inheritance pattern, predicting the likelihood that a person will develop the condition can be particularly difficult. Estimating the chance of developing or passing on a genetic disorder can be complex. Genetics professionals can help people understand these chances and help them make informed decisions about their health. For more information about passing on a genetic disorder in a family: The National Library of Medicine MedlinePlus web site offers information about the chance of developing a genetic disorder on the basis of its inheritance pattern. Scroll down to the section “Statistical Chances of Inheriting a Trait” for each of the following inheritance patterns: Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive The Centre for Genetics Education (Australia) provides an explanation of mitochondrial inheritance. The Muscular Dystrophy Association explains patterns and probabilities of inheritance. http://resqua.com/100005927200207/if-a-genetic-disorder-runs-in-my-family-what-are-the-chances-that-my-children-will-have-the-conditi

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Can changes in the structure of chromosomes affect health and development?

5 years, 8 months ago

Changes that affect the structure of chromosomes can cause problems with growth, development, and function of the body’s systems. These changes can affect many genes along the chromosome and disrupt the proteins made from those genes.

Structural changes can occur during the formation of egg or sperm cells, in early fetal development, or in any cell after birth. Pieces of DNA can be rearranged within one chromosome or transferred between two or more chromosomes. The effects of structural changes depend on their size and location, and whether any genetic material is gained or lost. Some changes cause medical problems ... ..more

ag5zfnJlc291cmNlLXFuYXITCxIGQW5zd2VyGICAgIDXkJ4LDA Livewello FAQs Question: Can changes in the structure of chromosomes affect health and development? Answer: Changes that affect the structure of chromosomes can cause problems with growth, development, and function of the body’s systems. These changes can affect many genes along the chromosome and disrupt the proteins made from those genes. Structural changes can occur during the formation of egg or sperm cells, in early fetal development, or in any cell after birth. Pieces of DNA can be rearranged within one chromosome or transferred between two or more chromosomes. The effects of structural changes depend on their size and location, and whether any genetic material is gained or lost. Some changes cause medical problems, while others may have no effect on a person’s health. Changes in chromosome structure include: Translocations (illustration: balanced), (illustration: unbalanced) A translocation occurs when a piece of one chromosome breaks off and attaches to another chromosome. This type of rearrangement is described as balanced if no genetic material is gained or lost in the cell. If there is a gain or loss of genetic material, the translocation is described as unbalanced. Deletions (illustration) Deletions occur when a chromosome breaks and some genetic material is lost. Deletions can be large or small, and can occur anywhere along a chromosome. Duplications (illustration) Duplications occur when part of a chromosome is copied (duplicated) too many times. This type of chromosomal change results in extra copies of genetic material from the duplicated segment. Inversions (illustration) An inversion involves the breakage of a chromosome in two places; the resulting piece of DNA is reversed and re-inserted into the chromosome. Genetic material may or may not be lost as a result of the chromosome breaks. An inversion that involves the chromosome’s constriction point (centromere) is called a pericentric inversion. An inversion that occurs in the long (q) arm or short (p) arm and does not involve the centromere is called a paracentric inversion. Isochromosomes (illustration) An isochromosome is a chromosome with two identical arms. Instead of one long (q) arm and one short (p) arm, an isochromosome has two long arms or two short arms. As a result, these abnormal chromosomes have an extra copy of some genes and are missing copies of other genes. Dicentric chromosomes (illustration) Unlike normal chromosomes, which have a single constriction point (centromere), a dicentric chromosome contains two centromeres. Dicentric chromosomes result from the abnormal fusion of two chromosome pieces, each of which includes a centromere. These structures are unstable and often involve a loss of some genetic material. Ring chromosomes (illustration) Ring chromosomes usually occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. The ring may or may not include the chromosome’s constriction point (centromere). In many cases, genetic material near the ends of the chromosome is lost. Many cancer cells also have changes in their chromosome structure. These changes are not inherited; they occur in somatic cells (cells other than eggs or sperm) during the formation or progression of a cancerous tumor. For more information about structural changes to chromosomes: The National Human Genome Research Institute provides a list of questions and answers about chromosome abnormalities, including a glossary of related terms. Chromosome Deletion Outreach offers a fact sheet on this topic titled Introduction to Chromosomes. This resource includes illustrated explanations of several chromosome abnormalities. The Centre for Genetics Education provides fact sheets about changes in chromosome number or size and chromosomal rearrangements (translocations). EuroGentest offers fact sheets about chromosome changes and chromosome translocations. The University of Leicester’s Virtual Genetics Education Center provides an explanation of structural chromosome aberrations. More technical information is available from the textbook Human Molecular Genetics (second edition, 1999) in the section about structural chromosome abnormalities. The Atlas of Genetics and Cytogenetics in Oncology and Haematology provides a technical introduction to chromosomal aberrations and a detailed discussion of ring chromosomes, particularly their role in cancer. #livewello http://resqua.com/100005927200207/can-changes-in-the-structure-of-chromosomes-affect-health-and-development

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Can you tell me about DNA repair and the health effects of gene mutations?

5 years, 8 months ago

The University of Utah Genetic Science Learning Center provides information about genetic disorders that explains why some mutations cause disorders but others do not. #Livewello

The National Coalition for Health Professional Education in Genetics explains how mutations can be harmful, neutral, or beneficial.

#Livewello ..more

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How can I manage the impact of glaucoma and diabetes ?

6 years ago

#bloodsugar #diabetes diet #glaucoma #glucose #insulin #vitaminc
Diabetes and Glaucoma: A New Perspective

A study at the University of Michigan found people with diabetes have a 35% higher chance of having Glaucoma than people who do not. The study went on to say the reason for the higher rates of glaucoma in diabetics is “unknown.” My purpose for writing this article is to explain the nutritional reasons that diabetes and glaucoma often go hand in hand.

Before going further, let me state this very clearly: The purpose of this article is to provide education. Both diabetes and glaucoma are serious ... ..more

ag5zfnJlc291cmNlLXFuYXITCxIGQW5zd2VyGICAgIDYtqMKDA Liver Question: How can I manage the impact of glaucoma and diabetes ? Answer: #bloodsugar #diabetes diet #glaucoma #glucose #insulin #vitaminc Diabetes and Glaucoma: A New Perspective A study at the University of Michigan found people with diabetes have a 35% higher chance of having Glaucoma than people who do not. The study went on to say the reason for the higher rates of glaucoma in diabetics is “unknown.” My purpose for writing this article is to explain the nutritional reasons that diabetes and glaucoma often go hand in hand. Before going further, let me state this very clearly: The purpose of this article is to provide education. Both diabetes and glaucoma are serious conditions requiring medical intervention. All eye conditions must be diagnosed and treated by an ophthalmologist. It is imperative that everyone with diabetes have an eye exam including a retinal exam and a glaucoma screening once yearly at a minimum. Never change your medication dosage without consulting your MD and/or ophthalmologist. If you wish to reduce the amount of glaucoma medication you take, consult with your ophthalmologist. Ask him or her to check your ocular pressure every three months, adjusting your dosage as needed. Failure to work with your ophthalmologist could result in blindness. Please do not take matters into your own hands. None of these statements were evaluated by the FDA and none are intended to diagnose, cure, prevent or treat any health condition. I was diagnosed with glaucoma in April of 2000. I reversed my glaucoma in less than six months using simple lifestyle changes and it has never returned. (I know it has not returned because I continue receiving ophthalmologic care on a yearly basis.) As someone who has had diabetes for over 45 years, I have dedicated my life to researching the biochemical effects of diabetes and to helping those who have it avoid complications. My research led me to draw distinct conclusions about why diabetics are more likely to have glaucoma. In the simplest terms, glaucoma is an increase in the internal pressure of the eye. (This is known as the prettyeye 300x225 Diabetes and Glaucoma: A New Perspective“intraocular pressure.”) In the most common form of Glaucoma, Open Angle Glaucoma, the increase in intraocular pressure often occurs because the eye’s drainage system, the trabecular meshwork, fails to drain excess fluid from the eye. This creates increased pressure within the eye. Left untreated, the increased pressure harms the ocular nerve, causing loss of peripheral vision in the early stages and blindness as the disease advances. Glaucoma typically has no symptoms. Those who have it rarely notice its effects until it progresses to the point it harms vision. Why do diabetics have such high rates of glaucoma? Some suspect it’s due to peripheral nerve and vessel damage caused by high glucose levels. This may be true, but if we dig into the chemistry of diabetes – and insulin – a much simpler cause comes to light. Glucose has a very similar molecular structure to Vitamin C. When cells become resistant to and stop absorbing insulin, they therefore also may stop absorbing vitamin C. (Insulin resistance occurs in Type 2 Diabetes due to excess insulin produced by the body; and in Type 1 Diabetes due to the need to inject high amounts of insulin.) What is one of the first effects of a Vitamin C deficiency? Increased interocular pressure. (For more information on insulin, read: Surprising Facts About Insulin.) Other deficiencies known to contribute to increased intraocular pressure include deficiencies in vitamin B12, magnesium, zinc, iron and others. All of these deficiencies are very common in people with diabetes. The fact that nutritional deficiencies contribute to or may cause glaucoma cannot be denied. Scientists in Russia have known this for years and very successfully treat glaucoma using a much different protocol than what is used in the US. Quite frankly, the US is one of few countries where glaucoma is treated purely with prescription medications. Other countries combine prescription medications with nutritional support. Multiple studies showed taking oral Vitamin C reduces interocular pressure by as much as 30% within half an hour. In spite of this being a known fact, very few ophthalmologists tell their patients to take a Vitamin C supplement. For many patients, taking 500 – 2000 mg of Vitamin C on a daily basis reduces their interocular pressure to the point they no longer need prescription medication. One study found Vitamin C was very effective at reducing eye pressure even for patients who did not respond to prescription medication. So can we reduce ocular pressure simply by taking Vitamin C? In part, yes; however, additional change must occur to allow the body’s cells to adequately absorb the Vitamin C. A key factor to allowing the body’s cells to absorb Vitamin C is to reduce the amount of insulin needed (or being produced by the body) and to improve the cells’ insulin sensitivity. This is typically accomplished by eating a low-carbohydrate diet, eating high amounts of antioxidant-rich foods on a daily basis, and other lifestyle changes. I recommend taking oral vitamin C throughout the process of improving insulin sensitivity and reducing insulin levels. Some people use vitamin C eye drops to bypass the digestive tract and get the vitamin C directly to the eye tissues, while others use intravenous vitamin C to deliver it directly to the blood stream. Although all three delivery methods are known to be effective, taking vitamin C orally is certainly the most convenient. Vitamin C is known to benefit diabetics in a variety of ways. In addition to aiding glaucoma, the antioxidant effects of vitamin C are known to help prevent cataracts by preventing the formation of compounds that can lodge in the lens of the eye. Vitamin C is also known to be beneficial for diabetic retinopathy and other diabetic complications. Vitamin C has also been shown to be effective at helping reduce high blood pressure when used in conjunction with other lifestyle changes. The use of vitamin C for both diabetes and glaucoma is beneficial in most cases. For me personally, the combination of high doses of oral Vitamin C, a strict low-carbohydrate eating style, and high intake of antioxidants quickly restored my intraocular pressure to normal. Since then, I continue eating limited amounts of carbs and still eat high amounts of vegetables, but reducing the amount of insulin I take on a daily basis seems to have been the key to permanently reducing my intraocular pressure. Reducing the amount of insulin I need on a daily basis allowed my cells to absorb Vitamin C and naturally decreased systemic inflammation. One of the greatest joys of my life is knowing I was able, by God’s grace, to permanently eliminate my need for glaucoma medication. I’ve had diabetes for over 46 years. I’ve lived on both sides of the “medical fence” and have devoted my life to helping other diabetics and anyone dealing with metabolic disorders. I have helped 100′s of Type 1 and Type 2 diabetics improve their glucose control, reverse their need for medication, lose weight and more. I have higher success rates than other practitioners because I live this on a daily basis. I know I can help you. Please contact me to schedule a consultation. References: Virno M, Bucci M: Oral treatment of Glaucoma with Vitamin C, The Eye, Ear, Nose and Throat Monthly, Vol. 46, 1502-1508, Dec. 1967 Liu KM, Swann D, Lee P, Lam KW . Inhibition of oxidative degradation of hyaluronic acid by uric acid. Curr Eye Res 1984;3:1049-1053 http://orthomolecular.org/library/jom/1995/pdf/1995-v10n0304-p165.pdf Schachtschabel DO, Binninber E. Stimulatory effects of ascorbic acid in hyaluronic acid synthesis of in vitro cultured normal and glaucomatous trabecular meshwork cells of the human eye. Z Gerontol 1993;26:243-246 http://www.cforyourself.com/Conditions/Eye_Conditions/eye_conditions.html http://resqua.com/100002135443410/how-can-i-manage-the-impact-of-glaucoma-and-diabetes

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