A genetic disorder is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is present from birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions.
Genetic disorders may or not be inherited by genes. If they are not inherited, it is caused due to a mutation or any change in the DNA. In order to be heritable, the defect will have to occur in the germ-line.
Genetic disorders may or not be inherited by genes. If they are not inherited, it is caused due to a mutation or any change in the DNA. In order to be heritable, the defect will have to occur in the germ-line.
A genetic illness can be given in a single gene, or many genes.
A single-gene disorder is the result of a single mutated gene. Most of the human diseases are caused by single-gene defects. Single-gene disorders can be passed on to subsequent generations in several ways. Genomic imprinting and uniparental disomy, however, may affect inheritance patterns. When a couple where one partner or both are sufferers or carriers of a single-gene disorder wish to have a child, they can do so through in vitro fertilization, which means they can then have a preimplantation genetic diagnosis to check whether the embryo has the genetic disorder.
A single-gene disorder is the result of a single mutated gene. Most of the human diseases are caused by single-gene defects. Single-gene disorders can be passed on to subsequent generations in several ways. Genomic imprinting and uniparental disomy, however, may affect inheritance patterns. When a couple where one partner or both are sufferers or carriers of a single-gene disorder wish to have a child, they can do so through in vitro fertilization, which means they can then have a preimplantation genetic diagnosis to check whether the embryo has the genetic disorder.
There are two types of chromosome where the illness can go:
X-LINKED Caused by a mutation in the X chromosome. Two types: x-linked dominant and x-linked recessive x-linked dominant The rarest inheritance pattern in genetical disorders (only a few have this inheritance pattern). Males and females can be both affected, but males are generally more severely affected. x-linked recessive Males are more frequently affected than females. (Male pattern: baldness and color blindness) Y-LINKED (also called holandric disorders) Caused by a mutation in the Y chromosome. This condition can only be transmitted from father to son, because women do not posses this chromosome. Y-linked disorders are quite rare but the most known example is infertility. |
Genetic disorders may also be complex, multifactorial, or polygenic, meaning they are likely associated with the effects of multiple genes in combination with lifestyles and environmental factors. Although complex disorders often run in families, they do not have a clear-cut pattern of inheritance. This makes it difficult to determine a person’s risk of inheriting or passing on these disorders. Complex disorders are also difficult to study and treat, because the specific factors that cause most of these disorders have not yet been identified.
Some of these diseases include asthma, autoimmune diseases such as multiple sclerosis, some cancers, diabetes, heart disease, hypertension, intellectual disability, mood disorder, obesity and infertility
Some of these diseases include asthma, autoimmune diseases such as multiple sclerosis, some cancers, diabetes, heart disease, hypertension, intellectual disability, mood disorder, obesity and infertility
Diagnosis
Due to the wide range of genetic disorders that are presently known, diagnosis of a genetic disorder is widely varied and dependent of the disorder. Most genetic disorders are diagnosed at birth or during early childhood. However, some can escape detection until the patient is adult.
It is possible to anticipate possible disorders in children and allow parents the chance to prepare for potential lifestyle changes, anticipate the possibility of stillbirth, or contemplate termination.
Prognosis
Not all genetic disorders directly result in death. However there are no known cures for genetic disorders. Many genetic disorders affect stages of development, such as Down's Syndrome. While others result in purely physical symptoms, such as Muscular Dystrophy. Other disorders, such as Huntington's Disease, show no signs until adulthood. Patients tend to maintain or slow the degradation of quality of life and maintain patient autonomy with physical therapy, pain management, and alternative medicine.
Treatment
Although they haven't found a proper treatment for most diseases, most of them involve treating the symptoms of the disorders in an attempt to improve patient quality of life, by trying to introduce a healthy gene to a patient. This should alleviate the defect caused by a faulty gene or slow the progression of disease.
Due to the wide range of genetic disorders that are presently known, diagnosis of a genetic disorder is widely varied and dependent of the disorder. Most genetic disorders are diagnosed at birth or during early childhood. However, some can escape detection until the patient is adult.
It is possible to anticipate possible disorders in children and allow parents the chance to prepare for potential lifestyle changes, anticipate the possibility of stillbirth, or contemplate termination.
Prognosis
Not all genetic disorders directly result in death. However there are no known cures for genetic disorders. Many genetic disorders affect stages of development, such as Down's Syndrome. While others result in purely physical symptoms, such as Muscular Dystrophy. Other disorders, such as Huntington's Disease, show no signs until adulthood. Patients tend to maintain or slow the degradation of quality of life and maintain patient autonomy with physical therapy, pain management, and alternative medicine.
Treatment
Although they haven't found a proper treatment for most diseases, most of them involve treating the symptoms of the disorders in an attempt to improve patient quality of life, by trying to introduce a healthy gene to a patient. This should alleviate the defect caused by a faulty gene or slow the progression of disease.
FEARFUL MEMORIES HAUNT MOUSE DESCENDANTS
A provocative study of mice reports that certain fears can be inherited through the generations. It has also been suggest that a similar phenomenon could influence anxiety and addiction in humans.
They spread acetophenone around a small room, while giving small electric shocks to mice. The animals eventually learned to associate the scent with pain, fearing acetophenone even without a shock. Then, they observed that this reaction was passed on to their pups. Despite never having encountered acetophenone in their lives, when little mice were introduced to this smell, they rapidly reacted to it, compared with the descendants of mice that had been conditioned to fear a different smell or that had gone through no such conditioning. A third generation of mice also inherited this reaction, as did mice conceived through in vitro fertilization with sperm from males sensitized to acetophenone. |
These responses were paired with changes to the brain structures that process scents. The mice sensitized to acetophenone, as well as their descendants, had more neurons that produce a receptor protein known to detect the odour compared with control mice and their progeny. Structures that receive signals from the acetophenone-detecting neurons and send smell signals to other parts of the brain were also bigger.
This phenomenon can be explained by DNA methylation. In the fearful mice, the acetophenone-sensing gene of sperm cells had fewer methylation marks, which could have led to greater expression of the odorant-receptor gene during development.
This phenomenon can be explained by DNA methylation. In the fearful mice, the acetophenone-sensing gene of sperm cells had fewer methylation marks, which could have led to greater expression of the odorant-receptor gene during development.