Library

feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
  • Peripheral myelin protein 22  (2)
  • Amiloride  (1)
  • Androgen receptor  (1)
  • 1
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Hereditäre motorische und sensible Neuropathien ; HMSN ; HNPP ; Peripheres Myelinprotein 22 ; Myelinprotein 0 ; Connexin 32 ; Key words Hereditary motor and sensory neuropathies ; HMSN ; HNPP ; Peripheral myelin protein 22 ; Myelin protein zero ; Connexin 32
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Hereditary neuropathies (HMSN) are among the most common genetic diseases in neurology. Various mutations in different genes are known which lead to the most frequent hereditary neuropathies. These mutations concern proteins of the myelin of the peripheral nervous system, as well as a gap-junction protein expressed in peripheral nerves. The molecular mechanisms leading from gene mutation to disease phenotypes are not fully understood. Nowadays, we are able to use DNA analysis for symptomatic, presymptomatic, and prenatal screening. The latter is of questionable value because of the variability in disease severity and outcome. Deeper insights into the molecular pathophysiology will, however, yield new therapeutic strategies in individual patients.
    Notes: Zusammenfassung Hereditäre motorische und sensible Neuropathien (HMSN) zählen zu den häufigsten vererbbaren Erkrankungen des Menschen. In den letzten Jahren wurden Mutationen in verschiedenen Genen gefunden, die als ursächlich für die Entstehung der hereditären Neuropathien angesehen werden müssen. Es handelt sich um Gene, deren Proteinprodukte zum einen Bausteine des Myelins des peripheren Nervensystems darstellen und zum anderen ein Gap-junction-Protein bilden, das die intra- und interzellulare Kommunikation ermöglicht. Es ist nicht bekannt, über welche Zwischenschritte die einzelnen genetischen Veränderungen zum jeweiligen Krankheitsphänotyp führen. Die Pathogenese ist also noch nicht in allen Einzelheiten aufgeklärt. Die molekulargenetischen Befunde erlauben in den weitaus meisten Fällen eine exakte Diagnose auch ohne Zuhilfenahme histologischer Untersuchungen. Ebenso ist eine pränatale Diagnostik möglich, deren Wertigkeit wegen der erheblichen Varianz der späteren Prognose des Krankheitsphänotyps jedoch gering ist. Durch die Aufklärung der Pathophysiologie sind neue, individualtherapeutisch einsetzbare, effektive Behandlungsmöglichkeiten zu erwarten.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 2
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Kennedy-Syndrom ; Spinobulbäre Muskelatrophie (SBMA) ; Dynamische Mutationen ; Androgenrezeptor ; Trinukleotidrepeat ; Key words Kennedy-Syndrome ; Spinobulbar muscular atrophy (SBMA) ; Dynamic mutations ; Androgen receptor ; Trinucleotide repeat expansion
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The Kennedy-Syndrome is a X-linked recessive bulbospinal muscular atrophy, in some cases associated with endocrinological disturbances such as androgen resistance and diabetes mellitus. The age of onset is usually between 20 and 40. Presenting symptoms are proximal flaccid weakness, fasciculations, cramps or tremor. Disease progression is usually slow and live expectancy is normal. It is important to distinguish the Kennedy-Syndrome from amyotrophic lateral sclerosis, spinal muscular atrophy, muscular dystrophies and other types of motor neuron disease. Kennedy disease is caused by an expanded trinucleotide repeat in the androgen receptor gene. Genetic analysis allows a precise diagnosis on an individual basis and reliable genetic counselling. An effective medical treatment does not yet exist.
    Notes: Zusammenfassung Das Kennedy-Syndrom ist eine X-chromosomal rezessiv vererbte bulbospinale Muskelatrophie, die in einigen Fällen mit endokrinologischen Störungen, wie einer partiellen Androgenresistenz und einem Diabetes mellitus einhergeht. Die Erkrankung manifestiert sich in der Regel zwischen dem 20. und 40. Lebensjahr. Initiale Symptome sind schlaffe proximale Paresen, Faszikulationen, Muskelkrämpfe oder Tremor. Die Progredienz der Krankheit ist meist langsam und die Lebenserwartung normal. Deshalb ist es wichtig, das Kennedy-Syndrom von der amyotrophen Lateralsklerose (ALS), spinalen Muskelatrophien (SMA), Muskeldystrophien und anderen Formen von Motorneuronerkrankungen abzugrenzen. Das Kennedy-Syndrom wird durch eine Trinukleotidexpansion im Gen des Androgenrezeptors verursacht. Heute erlaubt die genetische Diagnostik im Individualfall eine zuverlässige Diagnose und genetische Beratung. Eine effektive Behandlung existiert bisher noch nicht.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 3
    ISSN: 1432-1459
    Keywords: Key words Charcot-Marie-Tooth type 1 ; Peripheral myelin protein 22 ; Polymorphism ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract It is controversial if peripheral myelin protein 22 gene (PMP22) Thr 118Met represents a functionally irrelevant polymorphism or, since hemizygosity for this variant has been found in two patients with Charcot-Marie-Tooth disease type 1 (CMT1 patients), it can act as a recessive CMT1 mutation. To shed further light on this variant and its diagnostic value we searched for carriers in 1018 individuals from the German general population, in 104 probands with hereditary neuropathy with liability to pressure palsies (HNPP) who were carriers of the 1.5-Mb deletion frequently associated with this disorder, in 187 patients with the 1.5-Mb duplication, and in 22 patients with a CMT1 phenotype who did not have any detectable anomaly in the PMP22 gene. Using allele-specific PCR we identified 14 [allele frequency (AF)=0.007] in the German general population, one (AF=0.01) in the HNPP group and six (AF=0.016) and two (AF=0.05) carriers of the PMP22 Thr118Met mutation in the CMT1 groups with and without gene defect. Carriers from all groups showed nerve conduction velocities which did not differ from typical values for these groups. We conclude that the hemizygous occurrence of the 118Met allele does not usually cause CMT1. Because of previous reports on its association with disease, and because its allele product shows abnormalities in in vitro expression systems, it seems possible that this mutation, together with yet unidentified factors, predisposes to CMT1. Alternatively, previously reported disease associations occurred by chance, and the 118Met allele causes biochemical abnormalities irrelevant for CMT1 formation. In either case this mutation is not a clinically relevant disease marker.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Molecular genetics and genomics 241 (1993), S. 298-304 
    ISSN: 1617-4623
    Keywords: Amiloride ; Schizosaccharomyces pombe ; Multi-drug resistance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Amiloride, an inhibitor of various sodium transporters, is toxic to Schizosaccharomyces pombe at low concentration in minimal but not in rich media. Amiloride-resistant mutants were isolated and shown to represent a new locus (car1 for changed amiloride resistance) on chromosome I. The carl gene was cloned and sequenced. Sequence analysis revealed an open reading frame of 526 amino acids with a predicted molecular weight of 58 545 Da. It has 52% hydrophobic residues and belongs to the class of 12-transmembrane-domain transport proteins. Gene disruption of carl results in increased amiloride resistance. earl has sequence similarity to proteins from Candida associated with resistance to benomyl, methotrexate and cycloheximide. No single physiologically identifiable component of sodium transport appeared to be lost. We propose that earl serves an uptake function, perhaps as a symport with an unknown substrate and this carrier may transport amiloride into the cell. Further, we suggest that amiloride toxicity at low concentrations is not due to its effect on sodium transport but, rather, depends on intracellular interference with an unknown biosynthetic pathway.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...