Gene/Protein Disease Symptom Drug Enzyme Compound
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Two mice with an XXY karyotype and cryptorchid testes appeared spontaneously in a colony. The animals were H-Y antigen-positive, and had elevated serum levels of follicle-stimulating (FSH) and luteinizing (LH) hormones. Testes of the affected mice were atrophic, containing a few solid seminiferous cords surrounded by vast amounts of compact interstitial material. The cords were delimited by a broad tunica propria in which the basal lamina was irregularly thickened and stratified into a number of alternating dense and less dense layers. Most sex cords were populated by mature Sertoli cells and small pleomorphic elements resembling monocytic-derived macrophages. Within some cords, the macrophages aggregated into a central mass with which identifiable Sertoli cells and (PAS) periodic acid Schiff-positive fragments of basal lamina were associated. In more severely damaged cords, the basal lamina and peripheral carpet of Sertoli cells were totally missing. Such cords were populated only the the central macrophages with fragments of basal lamina and degenerating Sertoli cells. Finally, a few collapsed remnants of cords contained compact nodules of macrophages surrounded by what appeared to be the outer part of the tunica propria. The interstitial area, as well as the outer walls of the seminiferous cords were also heavily infiltrated by macrophages. Overall, the morphological picture was one of severe immunological injury. We do not know what role, if any, the genetic constitution and/or intra-abdominal environment may play in the expression of these bizarre pathologies. However, such severe changes have not been reported in either Klinefelter's syndrome or the undescended testes of any human or subprimate species.
Anat Rec 1981 Apr
PMID:Morphological profiles of cryptorchid XXY mouse testes. 611 94

Accurate segregation of genetic material during both mitosis and meiosis is essential for the viability of future cellular generations. Genetic material is packaged in the form of chromosomes during cell division, and chromosomes are segregated equally into two daughter cells by a dynamic, microtubule-based structure known as the spindle. Molecular motor proteins of the kinesin and dynein superfamilies are essential players in the functional microanatomy of cell division. They power various aspects of spindle assembly and function, including establishing spindle bipolarity, spindle pole organization, chromosome alignment and segregation, regulating microtubule dynamics, and cytokinesis. This review highlights the roles that various members of the kinesin and dynein motor superfamilies play during mitosis and meiosis. Understanding how microtubule motors function during cell division will unravel how the spindle precisely segregates chromosomes, and may offer insights into the molecular basis of disease states that arise from spindle malfunctions. For example, chromosome non-disjunction during meiosis causes such disorders as Klinefelter, Turner, and Down Syndromes. Chromosome non-disjunction during mitosis is an important contributing mechanism for tumor progression. In addition, since motor proteins are essential for spindle assembly and function, they provide obvious targets for intervention into the cell division cycle, and compounds that specifically block motor functions during mitosis may prove to be valuable chemotherapeutic agents. Anat Rec (New Anat) 261:14-24, 2000.
Anat Rec 2000 02 15
PMID:Dissecting the role of molecular motors in the mitotic spindle. 1070 Jul 32

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