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  • 1
    ISSN: 1432-0428
    Keywords: Key words Glucagon receptor gene ; susceptibility ; missense mutation ; non-insulin-dependent diabetes mellitus.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A possible pathogenic mutation in the glucagon receptor gene causing a Gly to Ser change at codon 40 (Gly40Ser) was reported to be associated and linked with non-insulin-dependent diabetes mellitus (NIDDM), in France and Sardinia. Since the frequency of the mutation (Gly40Ser), about 5 % in the French population of familial NIDDM and 8 % in randomly chosen diabetic patients in Sardinia, was much higher than that of any of the previously reported mutations in candidate genes, it is important to clarify whether the contribution of this mutation to NIDDM is universal. In this study, we investigated the association of this mutation with diabetes mellitus in a large number of Japanese diabetic patients (383 NIDDM and 53 insulin-dependent diabetic patients) by polymerase chain reaction-restriction fragment length polymorphism analysis. None of the Japanese diabetic patients showed Gly40Ser mutation and the association of this mutation with NIDDM was significantly different (p 〈 4 · 10−5 vs French, p 〈 3 · 10−6 vs Sardinian by Fisher's exact test). The results not only indicate that the mutation plays little, if any, role in susceptibility to diabetes in Japan, but also indicate the genetic heterogeneity in NIDDM and further emphasize the importance of studies on genetic susceptibility to NIDDM and other complex traits in different ethnic groups. [Diabetologia (1995) 38: 983–985]
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Experimental brain research 112 (1996), S. 197-202 
    ISSN: 1432-1106
    Keywords: Utricular nerve ; Vestibulospinal neuron ; Lateral and medial vestibulospinal tracts ; Vestibular nuclei ; Cat
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The axonal pathway, conduction velocities, and locations of the cell bodies of utricular nerve-activated vestibulospinal neurons were studied in decerebrated or anesthetized cats using the collision test of orthodromic and antidromic spikes. For orthodromic stimulation, bipolar tungsten electrodes were placed on the utricular nerve and the other vestibular nerve branches were transected. Monopolar tungsten electrodes were positioned on both sides of the upper cervical segments (C2–4), caudal end of the cervical enlargement (C7-T1), and from the lower thoracic to the upper lumbar segments (T12-L3) and were used for antidromic stimulation of the spinal cord. Another monopolar electrode was also placed in the oculomotor nucleus to study whether utricular nerve-activated vestibulospinal neurons have ascending branches to the oculomotor nucleus. Of the 173 vestibular neurons orthodromically activated by the stimulation of the utricular nerve, 46 were second-order vestibulospinal neurons and 5 were third-order neurons. The majority of the utricular nerve-activated vestibulospinal neurons were located in the rostral part of the descending vestibular nucleus and the caudal part of the ventral lateral nucleus. Seventy-three percent of the utricular nerve-activated vestibulospinal neurons descended through the ipsilateral lateral vestibulospinal tract. Approximately 80% of these neurons reached the cervicothoracic junction, but a few reached the upper lumbar spinal cord. Twenty-seven percent of the utricular nerve-activated vestibulospinal neurons descended through the medial vestibulospinal tract or the contralateral vestibulospinal tracts. Those axons terminated mainly in the upper cervical segments. Almost none of the utricular nerve-activated vestibular neurons had ascending branches to the oculomotor nucleus.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-5233
    Keywords: Key words Non-insulin-dependent diabetes mellitus ; MODY ; Hepatocyte nuclear factor-1α ; Genetics ; Microsatellite polymorphism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Recently, hepatocyte nuclear factor-1α (HNF-1α, which is encoded by the TCF1 gene) mutations were reported in a subset of patients with maturity onset diabetes of the young (MODY3). We studied the contribution of TCF1 to genetic susceptibility to common non-insulin-dependent diabetes mellitus (type 2) in Japanese subjects by investigating allelic association with type 2 diabetes use of three markers. We also studied the frequency of the G191D mutation, the only mutation of TCF1 reported so far in late-onset type 2 diabetes. A total of 356 subjects were studied. There were no significant differences in allele frequency of the three markers between patients with type 2 diabetes and control subjects. A G191D mutation was not found in the subjects studied, giving a frequency of less than 0.4% in common type 2 diabetes. The lack of association of type 2 diabetes with three markers in and near TCF1 suggests that mutations in TCF1 derived from a limited number of founders are not a major cause of common type 2 diabetes even in the genetically homogeneous Japanese population. The data also indicate that the G191D mutation in TCF1 plays little, if any, role in susceptibility to common type 2 diabetes in the Japanese.
    Type of Medium: Electronic Resource
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