- Collection:
- Atlanta University and Clark Atlanta University Theses and Dissertations
- Title:
- Menkes disease: identification of normal and aberrant copper transport protein of the upper GI tract of MObr mice, 1981
- Creator:
- Everett, James
- Date of Original:
- 1981-07-01
- Subject:
- Degrees, Academic
Dissertations, Academic - Location:
- United States, Georgia, Fulton County, Atlanta, 33.749, -84.38798
- Medium:
- theses
- Type:
- Text
- Format:
- application/pdf
- Description:
- The Brindled variant mouse (Mo ) is a neurological mutant mouse with a deficiency in copper transport (Hunt et al., 1974). The male of this sex-linked inherited disease survives for 14 days postnatally and has, in many respects, features common to the Menkes Kinky Hair Disease (MKHD) in humans. As in the case of MKHD, only male hemizygotes are affected but female heterozygotes show irregularly mottled color of their fur, as observed in the skin of a Black feamle that gave birth to an infant with MKHD. With the use of gel electrophoresis the banding pattern of intestinal cell membrane proteins from Mobr (Mobr male, Mobr female) mice were compared to those of the Black agouti type (normal littermates). When a difference in extracted protein components of the membranes compared was found, we further attempted to characterize this difference in the following ways (a) the individual protein bands were removed from the gels, concentrated and rechromatographed to ensure identity and purity, (b) where there was a quantitative dif-ference in the electrophoresed protein bands, these bands were also treated as in (a) above, (c) the protein was evaluated for (i) carbohydrate and lipid components; (ii) copper binding, (iii) zinc binding, (d) anti-bodies to the normal and Mo male (aberrant) proteins were prepared and the rabbit was used as the antibody producer, (e) these anti-bodies were injected into the mouse arterial system which supplies the upper small intestine. After a few hours, tests were run to ascertain the ability of the infected Black Agouti mouse to ascertain the ability of the infected Black Agouti mouse to transport copper across the intestinal mucosa into the blood. When we discovered a protein to be missing from the Mo male samples, the Ouchterlony method was used to determine whether the protein was truly deleted from the Mo male mouse or if there were structural alterations that caused the difference in electrophoretic behavior (band in another position). There are other tests that could have been done to determine the specific biochemical abnormality but these would require a very large number of progeny and current facilities do not allow for such a colony and the lack of predictability of the numbers of male hemizygotes per litter also argues against these at this time. A reasonable solution would be to set up the maintenance stocks of the Brindled strain and collect the data over a longer period of time. We are reporting the discovery of a biochemical marker that is related to the genetic
- External Identifiers:
- Metadata URL:
- http://hdl.handle.net/20.500.12322/cau.td:1981_everett_james
- Rights Holder:
- Clark Atlanta University
- Holding Institution:
- Atlanta University Center Robert W. Woodruff Library
- Rights:
-
