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What is the importance of Receptor-mediated Endocytosis in the genetic disorder Familial Hyper-Cholesterolemia?
Wiki User
∙ 11y ago
In mammalian cells, the LDL (low density lipoprotein) receptor transports cholesterol into the cell via receptor-mediated endocytosis. The cholesterol is then used by the cell for various metabolic functions and the receptor is recycled to the plasma membrane.
In patients suffering from Familial Hypercholesterolemia, the genes encoding the LDL receptor are mutated, as a result of which cholesterol is unable to bind to the LDL receptor. This leads to accumulation of cholesterol in the circulation, hence causing disease. Patients suffering from this disease are treated using drugs called Statins, which inhibit an important enzyme involved in cholesterol biosynthesis.
Wiki User
∙ 11y ago
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Which are some diseases caused by an autosomal dominant allele?
The following list (thanks to Wikipedia) are diseases caused by an autosomal dominant allele. Familial hypercholesterolemia Polycystic kidney disease Neurofibromatosis type I Hereditary sherocytosis Marfan syndrome Huntington's disease Hereditary nonpolyposis colorectal cancer Multiple exostoses
What is familial CJD?
Familial CJD, representing 5-15% of cases, is inherited in an autosomal dominant manner, meaning that either parent may pass along the disease to a child,
What is the Problems of Familial Mediterranean Fever?
We couldn't find "My kid 3 year old she is having a fever and stomach ache every 10-12 day past 2 month.What can be that ?"!
What type of condition is Familial Alzheimer's disease?
autosomal dominant, comprising 5-10% of all Alzheimer's disease cases (a brain disease in which death of nerve cells leads to progressive dementia).
What couseling may be appropriate for malignant melanoma patients?
For those with familial tendencies for malignant melanoma, genetic counseling may be appropriate. Psychological counseling may be appropriate for anyone having trouble coping with a potentially fatal disease.
Is familial hypercholesterolemia a multifactorial defect?
homosexual
What is familial hypercholesterolemia?
According to the Mayo Clinic, "familial hypercholesterolemia affects the way the body processes cholesterol. As a result, people with familial hypercholesterolemia have a higher risk of heart disease and a greater risk of early heart attack." It's a genetic condition that is present at birth, but its effects can be mitigated with medication and healthy lifestyle choices.
What is an autosomal dominant disorder that results in a defective or deficient LDL receptor known as?
An autosomal dominant disorder that results in a defective or deficient LDL receptor is known as familial hypercholesterolemia. (FH). Most patient with FH do not live beyond 30 without intervention.
When was Familial - album - created?
Familial - album - was created in 2001.
What does the medical term familial mean?
Familial in medical terms means hereditary.
How would you use familial in a sentence?
We invited my grandparents over for a familial Christmas dinner.
Is carcinoma a familial cancer?
yes because nevoid bAsal cell carcinoma is also familial
What are the characteristics of familial polyposis?
Familial polyposis or familial adenomatous polyposis (FAP) is a premalignant disease. This means that a person with FAP, if left untreated, will invariably develop cancer. Individuals with this disorder grow hundreds of polyps.
Can kids get cardiovascular disease?
Yes, children can get cardiovascular disease. This is most likely to happen if they have a family history of the disease or high cholesterol, called familial hypercholesterolemia. This is inherited in an autosomal dominant manner, which means you only need to get the abnormal gene from one parent. In rare cases, a child my inherit the gene from both parents and their risk of cardiovascular disease and early heart attacks is much greater.
What is the familial or the sporadic migraine?
Familial means hereditary, running in families, hence predictable at times. Sporadic means randomly caused, with no heredity that an be traced, usually by a mutation in the same gene that causes the familial form of the disorder.
How many syllable in familial?
Four
What chromosome has been identified with a familial predisposition to malignant melanoma?
Chromosome 9p has been identified as being involved in familial predisposition.
