PubMed · 4449608
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P Pace. 1974-12-15. [Eugenic consultation].. https://pubmed.ncbi.nlm.nih.gov/4449608/
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The aim of this study was two-fold: 1) To provide in DA-HAN rats the basic brain monoamine data useful for later investigations of the neurochemical effects of sensory alterations and 2) to assess whether there is a relationship between the monoaminergic pattern in medial vestibular nuclei and optokinetic performances. We comparatively studied the regional brain monoamine distribution and the optokinetic performances in pigmented DA-HAN and albino Sprague-Dawley rats. As expected, the optokinetic responses and vestibulo-ocular reflex gain were by far more efficient in DA-HAN rats. Norepinephrine (NE), dopamine (DA), serotonin (5-HT) and their metabolites were determined in retina, brainstem nuclei and dopaminergic areas. DA-HAN rats exhibited an increased noradrenergic activity in the medial vestibular nuclei, locus coeruleus and anteroventral cochlear nucleus, an extended decrease of serotonergic activity in brainstem nuclei and increased DA stores with a reduced dopaminergic activity in most dopaminergic areas. These data confirm and extend the general findings that biochemical data obtained in one strain cannot be extrapolated to another strain. The possible role of the morphological neuronal abnormalities and functional impairment induced by albinism has been discussed especially in medial vestibular nucleus, cochlear nuclei and retina. Alternatively, behavioral factors may also explain some of the observed neurochemical differences.
Albinism connotes a large group of genetic disorders that are characterized by diminished ocular and oftentimes cutaneous pigmentation. These disorders are generally subclassified as oculocutaneous albinism (OCA) or ocular albinism (OA) based on the extent of their effects on the pigmentation of the skin and hair. Sometimes, different mutations in the same gene can cause OCA or OA.
Griscelli disease (OMIM 214450) is a rare autosomal recessive disorder characterized by pigmentary dilution, variable cellular immunodeficiency and onset of acute phases of uncontrolled lymphocyte and macrophage activation, leading to death in the absence of bone-marrow transplantation. The pigmentary dilution is characterized by a diffuse skin pigmentation, silvery hair, large clumps of pigments in the hair shafts (Fig. 1) and an accumulation of melanosomes in melanocytes, with abnormal transfer of the melanin granules to the keratinocytes. Immunological abnormalities are characterized by absent delayed-type cutaneous hypersensitivity and an impaired natural-killer cell function. A similar disorder has been described in the dilute lethal mouse--which, however, differs by the occurrence of a severe neurological disorder. The dilute locus encodes myosin-Va, a member of the unconventional myosin family. Myosins bind actin and produce mechanical force through ATP hydrolysis. Some members of this family are thought to participate in organelle-transport machinery. Because of the phenotype resulting in the dilute mouse and because of their potential role in intracellular transport, unconventional myosin-encoding genes were regarded as candidate genes for Griscelli disease. Here we report that the Griscelli disease locus co-localizes on chromosome 15q21 with the myosin-Va gene, MYO5a, and that mutations of this gene occur in two patients with the disease. Griscelli disease is therefore a human equivalent of dilute expression in the mouse.