Ataxia-Telangiectasia: Neurodegenerative Genetic Disease

ataxia telangiectasia
Ataxia-telangiectasia is yet another example of a hutchinson gilford progeria syndrome caused by a deficiency of a gene product of central importance to the maintenance of genomic stability. Others could also be cited, permitting a generalization of what would seem to be intuitively obvious – namely, that an organism that has lost proficiency in maintaining the structure and function of its DNA will develop a pleiotropic set of signs and symptoms that only get worse during aging. These observations support the hypothesis that increasing genomic stability pays a major role in normative aging. (more…)

Hutchinson-Gilford Progeria Syndrome: Rare Abnormal Genetics Condition


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Hutchinson-Gilford Progeria syndrome (HGPS) is also known as progeria or progeria of childhood. Unlike Werner Syndrome, which has an autosomal recessive mode of inheritance, it is caused by a dominant mutation of a type known as a gain of function or a dominant negative. The affected gene is known as Lamin A/C. It codes for a protein that coats the inner lining of the nuclei of cells. There is evidence that defective forms of the protein result in two broad classes of abnormalities – a mechanical weakness of nuclei, with herniations of nuclear material, and defects in the regulation of gene expression. There is also evidence of accelerated replicative senescence of cultured somatic cells, but this is not as striking as in Werner Syndrome. (more…)

Parkinson’s Disease Genetic Factors: Hereditary Risk Causes

Several gene mutations have been shown to cause Parkinson’s Disease, but they account for a small minority of patients and have not been found in most individuals with sporadic Parkinson’s Disease. Epidemiological studies indicate a genetic contribution to the occurrence of sporadic Parkinson’s Disease. The World War II Veteran Twins Registry study shows that genetic factors play a role in sporadic PD when the disease manifests at or before age 50. Using positron emission tomography (PET) with 18 F-DOPA and longitudinal evaluation, 75% concordance of Parkinson’s Disease has been demonstrated in monozygotic twins versus 22% in dizygotic twins. (more…)