A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.

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A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.

Einarsdottir, Elisabet (author): Umeå universitet,Medicinsk och klinisk genetik

Carlsson, Anna (author): Umeå universitet,Medicinsk och klinisk genetik

Minde, Jan (author)

Toolanen, Göran (author): Umeå universitet,Ortopedi

Svensson, Olle (author): Umeå universitet,Ortopedi

Solders, Göran (author): Karolinska Institutet

Holmgren, Gösta (author): Umeå universitet,Medicinsk och klinisk genetik

Holmberg, Dan (author): Umeå universitet,Medicinsk och klinisk genetik

Holmberg, Monica (author): Umeå universitet,Medicinsk och klinisk genetik

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(creator_code:org_t)

2004-02-19
2004
English.
In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 13:8, s. 799-805

Related links:: http://www.ncbi.nlm....; show more...; https://academic.oup...; https://urn.kb.se/re...; https://doi.org/10.1...; http://kipublication...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

Identification of genes associated with pain insensitivity syndromes can increase the understanding of the pathways involved in pain and contribute to the understanding of how sensory pathways relate to other neurological functions. In this report we describe the mapping and identification of the gene responsible for loss of deep pain perception in a large family from northern Sweden. The loss of pain perception in this family is characterized by impairment in the sensing of deep pain and temperature but with normal mental abilities and with most other neurological responses intact. A severe reduction of unmyelinated nerve fibers and a moderate loss of thin myelinated nerve fibers are observed in the patients. Thus the cases in this study fall into the class of patients with loss of pain perception with underlying peripheral neuropathy. Clinically they best fit into HSAN V. Using a model of recessive inheritance we identified an 8.3 Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of functional candidate genes in the disease critical region revealed a mutation in the coding region of the nerve growth-factor beta (NGFB) gene specific for the disease haplotype. This NGF mutation seems to separate the effects of NGF involved in development of central nervous system functions such as mental abilities, from those involved in peripheral pain pathways. This mutation could therefore potentially provide an important tool to study different roles of NGF, and of pain control.

Keyword

Adolescent
Adult
Animals
Cattle
Child
Child; Preschool
DNA Mutational Analysis
Female
Guinea Pigs
Humans
Male
Mice
Nerve Growth Factor/*genetics
Pain/*genetics
Pain Insensitivity; Congenital/*genetics
Pedigree
Protein Structure; Secondary
Rats

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By the author/editor: Einarsdottir, El ...; Carlsson, Anna; Minde, Jan; Toolanen, Göran; Svensson, Olle; Solders, Göran; show more...; Holmgren, Gösta; Holmberg, Dan; Holmberg, Monica; show less...

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By the university: Umeå University; Karolinska Institutet

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