Chorein Expression In Peripheral Tissues

Kurano et al. reported that in mice, chorein is highly expressed in brain, testis, kidney, spleen and muscle [15]. In human, chorein is found in brain and blood, and at a high level in testis (Fig. 6). Minor expression can be observed in muscle tissue. So far, chorein was not detected in peripheral nerve, liver and kidney (Fig. 6) or spleen, small intestine and colon (data not shown). In most peripheral tissues except peripheral nerve, a band was found at 82 kDa, which was also seen in brain of

Fig. 5 Western blot for chorein in different brain regions from an individual affected by ChAc (*) and a non-affected control subject. In control, tissue a band corresponding to chorein is seen at 370 kDa. In ChAc tissue, chorein is absent. The two bands visible in these lanes (69 kDa and 306 kDa) are due to nonspecific cross reactions. In brain homogenate of the control, two further bands are seen (A, 160 kDa; B, 94 kDa), which may be due to alternative splicing or post-transla-tional modifications of chorein. fc, frontal cortex; cd, caudate nucleus; put, putamen; thai, thalamus. Numbers at the left side indicate molecular weight calibration in kDa

Fig. 5 Western blot for chorein in different brain regions from an individual affected by ChAc (*) and a non-affected control subject. In control, tissue a band corresponding to chorein is seen at 370 kDa. In ChAc tissue, chorein is absent. The two bands visible in these lanes (69 kDa and 306 kDa) are due to nonspecific cross reactions. In brain homogenate of the control, two further bands are seen (A, 160 kDa; B, 94 kDa), which may be due to alternative splicing or post-transla-tional modifications of chorein. fc, frontal cortex; cd, caudate nucleus; put, putamen; thai, thalamus. Numbers at the left side indicate molecular weight calibration in kDa

Fig. 6 (a) Western blot of peripheral tissues of a non-affected individual (42-year-old male) compared to brain tissue of an affected ChAc patient (35-year-old male). (b) Western blot of erythrocyte membrane preparations (RBC, red blood cells) of a ChAc patient and a non-affected control patient. Numbers at the left side indicate molecular weight calibration in kDa. Arrowheads indicate height of chorein band

Fig. 6 (a) Western blot of peripheral tissues of a non-affected individual (42-year-old male) compared to brain tissue of an affected ChAc patient (35-year-old male). (b) Western blot of erythrocyte membrane preparations (RBC, red blood cells) of a ChAc patient and a non-affected control patient. Numbers at the left side indicate molecular weight calibration in kDa. Arrowheads indicate height of chorein band affected and non-affected patients and therefore likely to be due to nonspecific cross-reactivity. A strong band at 317 kDa was also very likely to be attributable to nonspecific antibody cross-reactivity. In brain, as well as in muscle and especially in testis, a clear band appeared in the range of 94-97 kDa. This band was not present in ChAc brain and for that reason was possibly a product of alternative splicing of VPS13A or specific post-translational proteolytic modifications of chorein. A strong band at about 160 kDa was found both in testis and in unaffected brain tissue. Additionally, a large band appears in unaffected muscle tissue with its maximum at 199 kDa. ChAc muscle tissue has not yet been examined. There are several minor bands of as yet unknown origin showing up in testis. Further experiments have to be carried out to check whether these bands are chorein specific or not.

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