CADASIL Disease
Disease Overview Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the metabolic condition caused by a production of abnormal Notch 3 receptor proteins. The result of these abnormal proteins causes thickening of blood vessel walls that block the flow of blood to the brain. This is caused by a mutation in the Notch 3 gene. Cells containing abnormal Notch 3 receptor proteins results in disrupted normal functionality and ultimately leads to apoptosis of these cells. As the name of CADASIL suggests, it is an autosomal dominant inherited disease. This means that either parent needs to pass down a copy of the mutated gene to their offspring in order for them to develop CADASIL Disease. Underlying Gene Locus The Notch 3 gene is located on chromosome 19 …show more content…
Mutations on the Notch 3 gene are usually located on exons 2-24, which encode for 34 epidermal growth factor (EGF) repeats domain that makes up the principal extracellular arm of the Notch 3 receptor (Blasi, et al., 2013). The most common mutation is production of proteins with an odd number of cysteine residues within the 34 EGF, causing receptor homo/heterodimerization or multimerization (Blasi, et al., 2013). These abnormal proteins affect the function and activity of smooth muscle cells in the brain leading to degradation of these cells. The blood vessels surrounding the smooth muscle cells enlarge which results in blocked blood flow to the brain. The damaged blood vessels (arteriopathy) causes some of the symptoms categorized as CADASIL which are migraine headaches, multiple strokes progressing to dementia, cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Affected individuals do not necessarily start showing signs of the disease until around 30 years of
Disease Overview Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the metabolic condition caused by a production of abnormal Notch 3 receptor proteins. The result of these abnormal proteins causes thickening of blood vessel walls that block the flow of blood to the brain. This is caused by a mutation in the Notch 3 gene. Cells containing abnormal Notch 3 receptor proteins results in disrupted normal functionality and ultimately leads to apoptosis of these cells. As the name of CADASIL suggests, it is an autosomal dominant inherited disease. This means that either parent needs to pass down a copy of the mutated gene to their offspring in order for them to develop CADASIL Disease. Underlying Gene Locus The Notch 3 gene is located on chromosome 19 …show more content…
Mutations on the Notch 3 gene are usually located on exons 2-24, which encode for 34 epidermal growth factor (EGF) repeats domain that makes up the principal extracellular arm of the Notch 3 receptor (Blasi, et al., 2013). The most common mutation is production of proteins with an odd number of cysteine residues within the 34 EGF, causing receptor homo/heterodimerization or multimerization (Blasi, et al., 2013). These abnormal proteins affect the function and activity of smooth muscle cells in the brain leading to degradation of these cells. The blood vessels surrounding the smooth muscle cells enlarge which results in blocked blood flow to the brain. The damaged blood vessels (arteriopathy) causes some of the symptoms categorized as CADASIL which are migraine headaches, multiple strokes progressing to dementia, cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality. Affected individuals do not necessarily start showing signs of the disease until around 30 years of