CREBBP gene encodes the transcriptional co-activator CREB-binding protein. This protein can participate in cell growth, differentiation and development through a variety of signal transduction pathways. Variants in this gene may cause syndromic deafness by affecting signal transduction pathways and development of skeletal and nervous systems. This review has summarized the structure and function of the CREBBP gene and the pathogenetic mechanism of syndromic deafness caused by CREBBP gene variants, with an aim to provide a basis for clinical diagnosis and treatment.
Humans ; CREB-Binding Protein/chemistry* ; Deafness/genetics* ; Mutation ; Animals ; Syndrome ; Signal Transduction

OBJECTIVETo elucidate the therapeutic effect and the influence on PI3K-Akt-PKB-BAD-CREB-PCREB pathway in focal cerebral ischemia rat responses before and after treatment with baicalin and jasminoidin given alone or in combination.

METHODRat model of ischemia reperfusion was established with thread. Generally accepted methods were used, including TTC staining, behavior test, as well as micro and ultra microscopy which can dynamically and accurately monitor pathological and physiological changes after cerebral ischemia on earlier period, to evaluate the brain injury induced by ischemia and the attenuations by the drugs. The difference of PI3K-Akt-PKB-BAD-CREB-PCREB expression was detected by western-blot technology.

RESULT AND CONCLUSIONThe combination of baicalin and jasminoidin composition can be potential neuroprotective agent. TTC staining technology combined with behavior grade and ultrmicro-structure observation on brain tissue is effective method to evaluate protective agent, which is related to signal transduction PI3K-Akt-PKB-BAD-CREB-PCREB pathway. The results provide benofical basis for revealing the complex of therapeutic mechanism of traditional Chinese medicine Qingkai Ling (QKL).

Animals ; Behavior, Animal ; drug effects ; Brain ; pathology ; Brain Ischemia ; complications ; metabolism ; pathology ; CREB-Binding Protein ; metabolism ; Cyclic AMP Response Element-Binding Protein ; metabolism ; Drug Combinations ; Flavonoids ; isolation & purification ; pharmacology ; Gardenia ; chemistry ; Injections ; Iridoids ; isolation & purification ; pharmacology ; Male ; Neuroprotective Agents ; pharmacology ; Plants, Medicinal ; chemistry ; Proto-Oncogene Proteins c-akt ; metabolism ; Pyrans ; isolation & purification ; pharmacology ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Reperfusion Injury ; etiology ; metabolism ; pathology ; Scutellaria ; chemistry ; Signal Transduction