Tuesday, 29 October 2013

@Dementia - Genetic Mutation causes of Dementia

I. Dementia
About 5-8% of all people over the age of 65 have some form of dementia, and this number doubles every five years above that age. Dementia is the loss of mental ability that is severe enough to interfere with people's every life and Alzheimer's disease is the most common type of dementia in aging people. American typical diet contains high amount of saturated and trans fat, artificial ingredients with less fruits and vegetable which can lead to dementia and other kind of diseases.

II. Causes of dementia
I. Genetic Mutation causes of dementia
Genetic mutation is defined as a condition of changes genetic structure and alteration in the inherited nucleic acid sequence of the genotype(1). there are always a concern of some dementia patient that the diseases may have been inherited and they will pass it on to their children.
1. linkage of Dementia with Lewy bodies (DLB) to 2q35-q26
In the study to investigate the second most frequent form of neurodegenerative dementia after Alzheimer's disease is dementia with Lewy bodies (DLB) and the relationship between DLB on chromosome 2q35-q36 in a multiplex,  Belgian family,researchers at the Department of Molecular Genetics, VIB, Antwerpen indicated that Possibly the disease mutation in this family acts through a more complex mechanism than generally envisaged for monogenic disorders. Nevertheless, identifying the first familial DLB gene is likely to contribute an entry point into the pathogenic cascades underlying DLB pathology.(2)

2. VCP R155H mutation
There are report from the researchers at the Ophthalmology and Genetics, University of Genova, that Italian family with multiple individuals diagnosed as having IBMPFD and carrying the recurrent R155H mutation. The implications for genetic counselling were also discussed, with regard to the procedures that may be offered to families suffering from a multisystem disorder with high risk of cognitive decline.

3. Genetic mutation and Alzheimer's disease
In the article of With Alzheimer's disease, 4 genes have been identified that affect its development. Three of these genes (the amyloid precursor protein (APP ) gene, presenillin gene (PSEN-1), and presenillin gene (PSEN-1)) affect younger people, while one other (apolipoprotein E (APOE )) affects older people.  It is important to note, however, that these genetic reasons for Alzheimer's disease are very rare and account for less than 1 in 1000 cases of the disease(4)

4. Chromosome 3 (FTD-3) caused by a truncating mutation in CHMP2B
Significantly decreased CBF was found in presymptomatic CHMP2B mutation carriers in occipital-and parietal lobes. Comparing SE with GRE, data indicate that FTD-3 vascular pathology might primarily affect brain capillaries(5).

5. Mutations in the NOTCH3
Mutations in the NOTCH3 gene are responsible for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an adult onset hereditary angiopathy leading to ischemic stroke, vascular dementia and psychiatric disorders(6).

6. Etc.
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(1) http://www.thefreedictionary.com/genetic+mutation
(2) http://www.ncbi.nlm.nih.gov/pubmed/20164589 
(3) http://www.ncbi.nlm.nih.gov/pubmed/18341608
(4) http://www.dementiaguide.com/aboutdementia/typesofdementia/geneticmutations/
(5) http://www.ncbi.nlm.nih.gov/pubmed/22422914
(6) http://www.ncbi.nlm.nih.gov/pubmed/22053260

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