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PMID: 6330750 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Structural gene for beta-nerve growth factor not defective in familial dysautonomia.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 81 ·No. 13 ·1984-07-00 ·Pages 4213-6

Breakefield XO, Orloff G, Castiglione C, Coussens L, Axelrod FB, Ullrich A

Abstract

The developmental loss of neurons in sympathetic, sensory, and some parasympathetic ganglia in familial dysautonomia suggests an inherited defect in the action of beta-nerve growth factor (beta-NGF). The role of this growth factor in dysautonomia has been difficult to resolve as there is no known source of authentic human beta-NGF. The availability of a cloned DNA probe for the human beta-NGF gene has allowed identification of some copies of the gene (alleles) in six affected families. Alleles differ in the length of restriction endonuclease fragments that hybridize to DNA probes for the gene. In two families, affected children did not inherit the same two alleles at the beta-NGF locus. Since this disease is transmitted in an autosomal recessive manner, affected children must share the same alleles at the locus causing the disease. This analysis excludes the beta-NGF gene region as the cause of this neurologic disease but does not eliminate other genes involved in beta-NGF action, such as those coding for processing enzymes, receptors, or other subunits of the NGF complex.

MeSH Terms
Alleles Base Sequence Cell Line Child DNA Restriction Enzymes Dysautonomia, Familial/genetics Female Genes Humans Lymphocytes/physiology Male Nerve Growth Factors/genetics Nucleic Acid Hybridization Pedigree
Chemicals
Nerve Growth Factors DNA Restriction Enzymes
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Breakefield X O
Orloff G
Castiglione C
Coussens L
Axelrod F B
Ullrich A
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.81.13.4213
Published
1984-07-00
Pages
4213-6
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC345399
Subset
IM
Grants
NINDS NIH HHS · NS17083 · United States
External Links
PubMed source DOI: 10.1073/pnas.81.13.4213 PMC Full Text View journal details
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