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Neuronal Ceroid Lipofuscinosis

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1. Nadine has a form of neuronal ceroid lipofuscinosis (MIM 610127). She suffers from seizures, loss of vision, and lack of coordination, and will likely not survive beyond 10 years of age. Her cells lack an enzyme that normally breaks down certain proteins, causing them to accumulate and destroy the nervous system. Name two organelles that are affected in this illness.

2. Studies show that women experiencing chronic stress, such as from caring for a severely disabled child, have telomeres that shorten at an accelerated rate. Suggest a study that would address the question of whether men have a similar reaction to chronic stress.

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Solution Preview

1. Name two organelles that are affected in this disease (neuronal ceroid lipofuscinosis).
"The common characteristic in all of these disorders is a striking accumulation of autofluorescent storage material in all tissues, but especially the central nervous system. The ...

Solution Summary

The assignment is in two parts: first, what membrane-limited organelles are affected by neuronal ceroid lipofuscinosis or Batten's Disease and secondly, devise an experiment to see if telomere length is decreased in male care-givers.
As to the first part of the question, the answer is that all membrane-limited organelles are affected by lipofuscin accumulation. These would include the mitochondrion, endoplasmic reticulum, the Golgi Apparatus, lysosome, and endosome.
As to the second part, the student is exhorted to replicate the original experiment by Dr. Epel in which she showed a decreased telomere length in women care-givers. The student is directed to the original research paper and advised to replicate that experiment using male care-givers as the test subjects and males who are not care-givers as the control.

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