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Genetic disorders- mutation or change in DNA’s structure
What is Genetic disease?
The conclusion of defects, changes and mutations in a person’s DNA can cause the genetic disease or disorder. A mutation is a change in the letters of DNA sequence gets responsible for forming a gene. This is sometimes referred to as a “spelling” mistake. In the other words, genetic disorders are caused by one or more abnormalities in the genome. Most of the genetic disorders are found quite rarely and can affect one person out of every thousands or millions. Whether, when and to what level a person with the genetic defect or disorder will actually suffer from the disease, is almost always affected by environmental factors in which the person's development has happened. Proteins and molecules that carry out most of the work, perform most life’s functions, and forming up the majority of cellular structures, are regulated by the gene. That is why when a gene is mutated of infected then production of protein can not be remained longer to carry out its normal function therefore this barrier in protein production can arise a disorder. Genetic diseases can be caused by inheritance because these are happened due to mutations in the germ cells of the body—the cells involved in passing genetic information from parents to offspring. Genetic diseases are not only occurred due to mutation but also a result from changes in DNA in somatic cells, or cells in the body that are not germ cells.
Types of genetic diseases:
Briefly discussion: Some genetic diseases are categorized as in Mendelian disorders which are caused by mutations occurring in the DNA sequence of a single gene. These are also called as usually rare diseases; for instance Huntington’s disease and cystic fibrosis. Other the other hand most of the genetic diseases are multi-factorial which are caused by mutations in several genes multifaceted by environmental factors; for instance, heart disease, cancer, and diabetes.
These genetic diseases are generally categorized in for parts, are following
1. Single gene disorder:
This defect or abnormalities is the consequence of a single mutated gene. Approx. 4000 diseases are caused by single gene defects. Passing of Single gene disorders to subsequent generations can be happened in several ways. Genomic imprinting may also affect inheritance patterns. For instance, achondroplasia is usually considered a dominant disorder, but children with two genes for achondroplasia have a severe skeletal disorder. Sickle-cell anemia is also considered as a recessive condition.
· Autosomal dominant:
Only one mutated copy of the gene or little change can be affected by an autosomal dominant disorder. Each affected person usually has one affected parent surely. The chance a child will inherit the mutated gene is 50%. Examples of this type of disorder are Huntington's disease, neurofibromatosis type 1, neurofibromatosis type 2 and Marfan syndrome.
· Autosomal recessive:
Two copies of the gene mustbe mutated for a person to be affected by an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Two unaffected people whom each carry one copy of the mutated gene have a 25% chance with each pregnancy of having a child affected by the disorder. Examples: cystic fibrosis, sickle-cell disease and etc.
· X-linked dominant:
X-linked dominant disorders, caused by mutations in genes on the X chromosome, can affect both male and female. Only a few disorders have this inheritance pattern with a prime example being X-linked hypophosphatemic rickets. Males are normally more affected with these ailments in comparison to the females. Some X-linked dominant examples are Rett syndrome, incontinentia pigmenti type 2, and Aicardi syndrome.
· X-linked recessive:
X-linked recessive conditions are also caused by mutations in genes on the X chromosome. Males are more frequently affected than females, and the chance of passing on the disorder 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. Example: hemophilia A, Duchenne muscular dystrophy, and Lesch-Nyhan syndrome.
Y-linked disorders may also be called as holandric disorders, are caused by mutations on the Y only be passed from men to their sons. Females can never be affected because they do not possess y linked chromosomes.
2. Chromosomal abnormalities:
The mutations occurring in chromosomes can be caused to change in various genetic sequences. This mutation can cause chromosomal abnormalities like aneuploidy, which includes Down syndrome, Turner syndrome, chromosomal sequence deletion, inversion of chromosomal sequence, and even translocation.
3. Mitochondrial diseases:
This type of inheritance is also known as maternal inheritance, affects to genes in mitochondrial DNA because only egg cells contribute mitochondria to the developing embryo. Only females can pass mitochondrial conditions to their children. Example: Leber's hereditary optic neuropathy.
4. Multi-factorial and polygenic disorders: Genetic diseases may also be complex or multi-factorial or polygenic, explain itself are related to the effects of multiple genes in combination with lifestyles and environmental factors. Multi-factorial disorders are following:
· autoimmune diseases such as multiple sclerosis
· heart disease
· inflammatory bowel disease
· intellectual disability
· mood disorder
· Refractive error
Treatments for genetic disorders:
Pre-implantation Genetic Diagnosis (PGD)
PGD treatment is a laboratory procedure performed in conjunction with in vitro fertilization (IVF) to help detect genetic diseases. By working with our team at ivfsurrogacy.com.au, Those Families which have been affecting by any inherited disease can reduce the risk for their embryos which will suffer that genetic disorder. Even families in the search of a donor of bone marrow may be able to use PGD treatment to bring a child into the world by providing identical stem cells. We at ivfsurrogacy.com.au are the forge of this type of testing.
Once we at ivfsurrogacy.com.au receive your cheek swab samples and DNA test results, our experts assemble a probe specifically designed for your family. Once the probe gets completed by our top-notch doctor’s excellence, the biopsied cells are analyzed to determine both types of embryos such as inherited with the disease as well as free from the diseases. This whole process is started from this pattern.
· Normally the patient is treated by in-vitro fertilization (IVF) treatment to collect and fertilize patient’s eggs.
· Then the embryo is left for growth in the laboratory for two - three days until the cells divide and the embryo consists of around eight cells.
· An upmost and skilled embryologist eliminates one or two of the cells from the embryo.
· After that process, the cells are kept for testing to see whether the embryo from which they were removed contains the gene that causes the genetic condition in the family.
· By the conditions, unaffected embryos are transferred to the womb to let them to be developed.
· One of the suitable remaining unaffected embryos can be kept safely under particular conditions and atmosphere for later use. Those embryos that are affected by the condition are allowed to perish.
· The woman is given a pregnancy blood test about two weeks after the embryo transfer.
Other option for Genetic Diseases Treatment:
Bone marrow transplantation (BMT) is also one of the treatments to cure the variety of genetic diseases called "inborn errors of metabolism" or may be called as "storage diseases." The deficiency of a specific substance in the body can be caused for these diseases, for instance protein which results in the accumulation of toxic chemicals inside the cells.
The reason of a bone marrow stem cell transplant for children suffering from these disorders is to provide special marrow-derived cells, which travel to various organs in the body including the: · Skin, called Langerhan's cells
· Spleen, called macrophages
· Tonsils, called lymphocytes and macrophages
· Brain, called microglia
Depending upon the protein abnormality and the chemicals that accumulate, specific patterns of tissue damage and organ failure occur, some ailments are following:
• Bone abnormalities and joint disability
• Enlargement of the liver and spleen in the abdomen • Central nervous system deterioration
• Growth failure • Heart disease
• Airway obstruction
• Lung disease
• Corneal clouding
• Hearing loss
The organ damage and outcome of the different diseases is quite variable, although the ones in which BMT has been evaluated are those that have a naturally progressive downward course usually end at death during childhood. The storage disease that has received the most attention is Hurler's mucopolysaccharidosis, are also known as MPS I. However, many other inborn errors or storage diseases have been successfully healed by the help the BMT, including metachromatic leukodystrophy, and Krabbe's disease. Treatment of genetic disorders in India as well as in Thailand:
The top-most treatments for genetic diseases in India as well as in Thailand are offered at ivfsurrogacy.com.au. One of the most reliable and satisfactory treatments at ivfsurrogacy.com.au are provided to our patients roam not only from India but also from other partsof globe. Now-a-days, there is huge demand for PGD treatments to get rid from genetic disorders around the world. This treatment, commonly, lays in trend perfectly, fulfilling the expectations of sufferer.
Success rate of PGD:
The success rate of PGD treatment at ivfsurrogacy.com.au is always more than 90% for knowing about the genetic abnormalities or disorders. Once we have the genetic information about each embryo available, we are able to sit down with each couple prior to the embryo transfer, talk about the genetic health of each embryo, give details how the genetic information has improved the chances for pregnancy success comparing their prior unsuccessful attempts at IVF somewhere else. Because PGD treatment at ivfsurrogacy.com.au so improves the success of IVF.
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