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Absence of disturbed axonal transport in spinal and bulbar muscular atrophy

MALI, Bilal ; NIRMALANANTHAN, Niranjanan ; BILSLAND, Lynsey G ; LA SPADA, Albert R ; HANNA, Michael G ; SCHIAVO, Giampietro ; GALLO, Jean-Marc ; GREENSMITH, Linda

Human molecular genetics, 2011-05, Vol.20 (9), p.1776-1786 [Periódico revisado por pares]

Oxford: Oxford University Press

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Título:
Absence of disturbed axonal transport in spinal and bulbar muscular atrophy
Autor: MALI, Bilal ; NIRMALANANTHAN, Niranjanan ; BILSLAND, Lynsey G ; LA SPADA, Albert R ; HANNA, Michael G ; SCHIAVO, Giampietro ; GALLO, Jean-Marc ; GREENSMITH, Linda
Assuntos: Amino acid sequence ; Androgen receptors ; Animal models ; Animals ; Axonal Transport ; Biological and medical sciences ; Disease Models, Animal ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Expression ; Genetics of eukaryotes. Biological and molecular evolution ; Humans ; Kennedy's disease ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Microtubule-associated proteins ; Molecular and cellular biology ; Motor neuron disease ; Motor neurons ; Motor Neurons - metabolism ; Muscular Atrophy - genetics ; Muscular Atrophy - metabolism ; Muscular Atrophy, Spinal - genetics ; Muscular Atrophy, Spinal - metabolism ; Polyglutamine ; Sciatic nerve ; spinal and bulbar muscular atrophy ; Spinal cord ; Tau protein ; tau Proteins - genetics ; tau Proteins - metabolism ; Transcription ; trinucleotide repeat diseases
É parte de: Human molecular genetics, 2011-05, Vol.20 (9), p.1776-1786
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Descrição: Spinal and bulbar muscular atrophy (SBMA), or Kennedy's disease, is a late-onset motor neuron disease (MND) caused by an abnormal expansion of the CAG repeat in the androgen receptor (AR) gene on the X-chromosome, encoding a polyglutamine (poly-Q) sequence in the protein product. Mutant poly-Q-expanded AR protein is widely expressed but leads to selective lower motoneuron death. Although the mechanisms that underlie SBMA remain unclear, defective axonal transport has been implicated in MND and other forms of poly-Q disease. Transcriptional dysregulation may also be involved in poly-Q repeat pathology. We therefore examined axonal transport in a mouse model of SBMA recapitulating many aspects of the human disease. We found no difference in the expression levels of motor and the microtubule-associated protein tau, in the spinal cord and sciatic nerve of wild-type (WT) and SBMA mice at various stages of disease progression. Furthermore, we found no alteration in binding properties of motor proteins and tau to microtubules. Moreover, analysis of axonal transport rates both in cultured primary motoneurons in vitro and in vivo in the sciatic nerve of adult WT and mutant SBMA mice demonstrated no overt axonal transport deficits in these systems. Our results therefore indicate that unlike other motoneuron and poly-Q diseases, axonal transport deficits do not play a significant role in the pathogenesis of SBMA.
Editor: Oxford: Oxford University Press
Idioma: Inglês

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Absence of disturbed axonal transport in spinal and bulbar muscular atrophy

MALI, Bilal ; NIRMALANANTHAN, Niranjanan ; BILSLAND, Lynsey G ; LA SPADA, Albert R ; HANNA, Michael G ; SCHIAVO, Giampietro ; GALLO, Jean-Marc ; GREENSMITH, Linda

Oxford: Oxford University Press

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