Abstract |
Wolfram syndrome (WS) is characterized by optic atrophy, insulin-dependent diabetes mellitus, vasopressin (VP)-sensitive diabetes insipidus, and neurosensory hearing loss. Here we report a disturbance in VP precursor processing in the supraoptic and paraventricular nuclei of WS patients. In these patients with diabetes insipidus we could hardly detect any cellular immunoreactivity for processed VP in the supraoptic and paraventricular nuclei. On the other hand, in the paraventricular nucleus a considerable number of cells immunoreactive for the VP precursor were present. In addition, the proprotein convertase PC2 and the molecular chaperone 7B2 were absent. As expression of PC2 and 7B2 was detected in the nearby nucleus basalis of Meynert of one WS patient and in the anterior lobe of the other WS patient, the absence of the two proteins in the paraventricular nucleus was not due to mutations in their genes. These results indicate that in WS patients with diabetes insipidus, not only does VP neuron loss occur in the supraoptic nucleus, but there is also a defect in VP precursor processing.
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Authors | B A Gabreëls, D F Swaab, D P de Kleijn, A Dean, N G Seidah, J W Van de Loo, W J Van de Ven, G J Martens, F W Van Leeuwen |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 83
Issue 11
Pg. 4026-33
(Nov 1998)
ISSN: 0021-972X [Print] United States |
PMID | 9814487
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Molecular Chaperones
- Nerve Tissue Proteins
- Neuroendocrine Secretory Protein 7B2
- Pituitary Hormones
- Protein Precursors
- SCG5 protein, human
- Vasopressins
- Subtilisins
- Proprotein Convertase 2
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Topics |
- Adult
- Aged
- Aged, 80 and over
- Case-Control Studies
- Diabetes Insipidus
(metabolism)
- Female
- Humans
- Male
- Middle Aged
- Molecular Chaperones
(metabolism)
- Nerve Tissue Proteins
(metabolism)
- Neuroendocrine Secretory Protein 7B2
- Paraventricular Hypothalamic Nucleus
(metabolism)
- Pituitary Hormones
(metabolism)
- Proprotein Convertase 2
- Protein Precursors
(metabolism)
- Protein Processing, Post-Translational
- Subtilisins
(metabolism)
- Supraoptic Nucleus
(metabolism)
- Vasopressins
(metabolism)
- Wolfram Syndrome
(metabolism)
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