Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q9UIJ5 (Rec)
 58,342 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Within the central nervous system, the olfactory system represents one of the most exciting scenarios since it presents relevant examples of long-life sustained neurogenesis and continuous axonal outgrowth from the olfactory epithelium with the subsequent plasticity phenomena in the olfactory bulb. The olfactory nerve is composed of nonmyelinated axons with interesting ontogenetic interpretations. However, the centripetal projections from the olfactory bulb are myelinated axons which project to more caudal areas along the lateral olfactory tract. In consequence, demyelination has not been considered as a possible cause of the olfactory symptoms in those diseases in which this sense is impaired. One prototypical example of an olfactory disease is Kallmann syndrome, in which different mutations give rise to combined anosmia and hypogonadotropic hypogonadism, together with different satellite symptoms. Anosmin-1 is the extracellular matrix glycoprotein altered in the X-linked form of this disease, which participates in cell adhesion and migration, and axonal outgrowth in the olfactory system and in other regions of the central nervous system. Recently, we have described a new patho-physiological role of this protein in the absence of spontaneous remyelination in multiple sclerosis. In the present review, we hypothesize about how both main and satellite neurological symptoms of Kallmann syndrome may be explained by alterations in the myelination. We revisit the relationship between the olfactory system and myelin highlighting that minor histological changes should not be forgotten as putative causes of olfactory malfunction.
Anat Rec (Hoboken) 2013 Sep
PMID:Olfactory system and demyelination. 2390 51

This article aims to describe what is it like to perceive reality when suffering from congenital anosmia. Nevertheless, this objective entails a fundamental difficulty. Since I have never had the experience of olfaction, it seems natural to me to live in a world lacking the olfactory dimension; this subjective perception is the only one I know and in consequence it is difficult to describe. For this reason, in recent years I have begun to develop long conversations with other people suffering from congenital anosmia, people who have lost their sense of olfaction in adulthood and also people with a good sense of smell. My goal is to draw a map showing the principal differences that might allow us to develop a systematic comparison. Obviously, this is not an experimental or quantitative scientific procedure, but only a modest attempt to compare personal stories about subjective experiences. It is a philosophical-literary exercise, and does not aim to be anything other than that. But I hope it will help to formulate meaningful questions, which would then need a properly scientific approach. In the first part of this article I want to try to describe how I became aware that other people could smell; and in a second part, I will try to examine the consequences of anosmia in different areas of everyday life: nourishment, relationships with people, own body perception, natural or urban environments perception, time perception, and finally aesthetic appreciation and the implications of living in a world without stench.
Anat Rec (Hoboken) 2013 Sep
PMID:A world without the olfactory dimension. 2390 63