Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:P30536 (
PBS
)
9,886
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The etiology and pathogenesis of
PBS
are still quite vague, despite very intensive investigations performed in that field. Numerous data can be found in the literature that contribute to the knowledge of
PBS
and to the explanation of this condition. Taking into consideration the data available (case descriptions, embryology, experimental embryology, genetics),
PBS
is meant to occur due to the disturbance of inductive interaction of tissues which leads to a deficient cell differentiation and to the disturbances of the primary field, resulting in multiple malformations which developmentally belong to the primary field in question. The causes inducing deficient tissue differentiation and the impediments disturbing inductive interaction are numerous and various. According to data in the literature, disturbances responsible for the occurrence of
PBS
can be induced by chemical agents (exposition to
Tigan
and Bendectin), mechanical agents (intrauterine edema), gene disturbances (described occurrence of
PBS
in a Nigerian family), and cases of
PBS
associated with chromosomal anomalies. The condition similar to
PBS
has been induced experimentally in animals by gene mutation (Danforth's short-tailed rats). If it is accepted that
PBS
is in a certain number of cases hereditary, it can be presumed that, according to the Nigerian authors, X related recessive transfer is involved here. As males suffering from
PBS
are sterile, they cannot transfer pathological genes, that is to say the disease itself. The only theoretical possibility for a female child whose karyotype is 46, XX, to be affected by
PBS
, would be when it inherits one affected X chromosome from its mother, while the second X chromosome has a mutation de novo. This could be an explanation for an extremely rare occurrence of
PBS
in female persons. The other explanation, according to McKusick, is that
PBS
can be also autosomally dominantly inherited (de novo mutation). The incidence of
PBS
in the female population is probably somewhat increased by "non-genic" etiological factors (chemical and mechanical agents). It is very difficult to say how strong is the influence of a certain factor on the occurrence of
PBS
. Therefore, it could be concluded that the etiology of
PBS
is heterogeneous, chromosomal, genic, and multifactorial, but regardless of the factor, it is always the primary field that is affected (in this case the ability of inductive interaction of the mesenchyme) leading to all other disturbances. Everything mentioned so far indicates that according to valid criteria,
PBS
can be regarded as a malformation, that is, a primary developmental disturbance.(ABSTRACT TRUNCATED AT 400 WORDS)
...
PMID:[The prune belly syndrome]. 274 24
