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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
1998-1-16
|
| pubmed:abstractText |
A duplication of a 1.5-Megabase genomic region encompassing the gene for the peripheral myelin protein 22 (PMP22) is found on chromosome 17p11.2-12 in Charcot-Marie-Tooth disease type 1A (CMT1A), whereas the reciprocal deletion is associated with hereditary neuropathy with liability to pressure palsies (HNPP). Since most CMT1A patients harbor three copies of the PMP22 gene, and most HNPP patients carry only a single copy, a gene dosage effect has been proposed as a mechanism for both diseases. We have analyzed the steady-state expression of PMP22 protein in sural nerve biopsies from three CMT1A and four HNPP patients. Quantitative immunohistochemical determination showed that PMP22 protein expression relative to that of myelin protein zero and myelin basic protein was increased in all CMT1A patients and reduced in all HNPP patients, as compared with biopsy samples of patients with normal PMP22 gene expression. These data demonstrate that both neuropathies result from an imbalance of PMP22 protein expression.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Dec
|
| pubmed:issn |
0028-3878
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
49
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1635-40
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:9409359-Adolescent,
pubmed-meshheading:9409359-Adult,
pubmed-meshheading:9409359-Biopsy,
pubmed-meshheading:9409359-Charcot-Marie-Tooth Disease,
pubmed-meshheading:9409359-Child,
pubmed-meshheading:9409359-Female,
pubmed-meshheading:9409359-Gene Dosage,
pubmed-meshheading:9409359-Genetic Predisposition to Disease,
pubmed-meshheading:9409359-Genotype,
pubmed-meshheading:9409359-Humans,
pubmed-meshheading:9409359-Immunohistochemistry,
pubmed-meshheading:9409359-Male,
pubmed-meshheading:9409359-Middle Aged,
pubmed-meshheading:9409359-Myelin Basic Proteins,
pubmed-meshheading:9409359-Myelin P0 Protein,
pubmed-meshheading:9409359-Myelin Proteins,
pubmed-meshheading:9409359-Nerve Compression Syndromes,
pubmed-meshheading:9409359-Paralysis,
pubmed-meshheading:9409359-Peripheral Nervous System Diseases,
pubmed-meshheading:9409359-Sural Nerve
|
| pubmed:year |
1997
|
| pubmed:articleTitle |
Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies.
|
| pubmed:affiliation |
Department of Research, University Hospital Basel, Switzerland.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|