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Answer to your Health Question

Question (06/28/2013):

Title: What diseases or conditions a genetic variation can cause?

I would like to know what diseases or conditions can cause Benign Polymorphism of the repeating TR sequence.

As this was the result of some DNA testing my neurologist had done.

I suffer from hypothyroidism, motor neuron disease, degenerative disc and joint disease, multiple intestinal issues, and allergic alveolitis.

Answer:

Thank you very much for your question.

Experimental animals with genetic deficiencies in DNA repair often show decreased life span and increased cancer incidence.

For example, mice deficient in the dominant NHEJ pathway and in telomere maintenance mechanisms get lymphoma and infections more often, and, as a consequence, have shorter lifespans than wild-type mice.

In similar manner, mice deficient in a key repair and transcription protein that unwinds DNA helices have premature onset of aging-related diseases and consequent shortening of lifespan.

However, not every DNA repair deficiency creates exactly the predicted effects; mice deficient in the NER pathway exhibited shortened life span without correspondingly higher rates of mutation.

If the rate of DNA damage exceeds the capacity of the cell to repair it, the accumulation of errors can overwhelm the cell and result in early senescence, apoptosis, or cancer.

A number of individual genes have been identified as influencing variations in life span within a population of organisms.

The effects of these genes is strongly dependent on the environment, in particular, on the organism's diet.

Caloric restriction reproducibly results in extended lifespan in a variety of organisms, likely via nutrient sensing pathways and decreased metabolic rate. The molecular mechanisms by which such restriction results in lengthened lifespan are as yet unclear; however, the behavior of many genes known to be involved in DNA repair is altered under conditions of caloric restriction.


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