Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01189 (beta-endorphin)
 21,003 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The levels of corticotropin-releasing hormone (CRH) in cerebrospinal fluid (CSF) and plasma were examined in two cases of hereditary dentatorubropallidoluysian atrophy (DRPLA). Both patients were female and showed cerebellar ataxia, choreic movement and subcortical dementia. The onset ages of the first and second patients were 30 and 47 years, respectively. The first patient did not have the cerebral white matter damage (CWD). The second patient of late onset was associated with marked and diffuse CWD which was shown as high signal intensity by T2-weighted image on MRI. Regardless of accompaniment with CWD, the radioimmunoassay studies of CSF and plasma CRH revealed that both patients had markedly reduced levels of CRH in CSF and plasma. Together with the recent anatomic evidence on the distribution of CRH neurons and receptors in the central nervous system, the present results suggest that degeneration of the subcortical structures including the basal nuclei, the brain stem and the cerebellum involves degeneration and/or dysfunction of the CRH neuronal system which, presumably, are related to those of some other neurotransmitter systems, and that the reduced activity of the CRH system plays a pathophysiological role in such diseases as DRPLA with degeneration of the subcortical nuclei and the cerebellum.
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PMID:[Cerebrospinal fluid and plasma corticotropin-releasing hormone (CRH) in dentatorubropallidoluysian atrophy (DRPLA)--study in two cases of hereditary DRPLA]. 837 Feb 12

Triple-A syndrome (MIM 231550; also known as Allgrove syndrome) is an autosomal recessive disorder characterized by adrenocorticotropin hormone (ACTH)-resistant adrenal insufficiency, achalasia of the oesophageal cardia and alacrima. Whereas several lines of evidence indicate that triple-A syndrome results from the abnormal development of the autonomic nervous system, late-onset progressive neurological symptoms (including cerebellar ataxia, peripheral neuropathy and mild dementia) suggest that the central nervous system may be involved in the disease as well. Using fine-mapping based on linkage disequilibrium in North African inbred families, we identified a short ancestral haplotype on chromosome 12q13 (<1 cM), sequenced a BAC contig encompassing the triple-A minimal region and identified a novel gene (AAAS) encoding a protein of 547 amino acids that is mutant in affected individuals. We found five homozygous truncating mutations in unrelated patients and ascribed the founder effect in North African families to a single splice-donor site mutation that occurred more than 2,400 years ago. The predicted product of AAAS, ALADIN (for alacrima-achalasia-adrenal insufficiency neurologic disorder), belongs to the WD-repeat family of regulatory proteins, indicating a new disease mechanism involved in triple-A syndrome. The expression of the gene in both neuroendocrine and cerebral structures points to a role in the normal development of the peripheral and central nervous systems.
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PMID:Mutant WD-repeat protein in triple-A syndrome. 1106 74