Objective To analyse gene mutation in members of a Chinese family with Hailey-Hailey disease(HHD)and study the relationship between the genotype and clinical features of the disease.Meth-ods Genomic DNA of leucocytes were obtained from members of the Chinese family with HHD including4patients and6normal persons.Ten exons of ATP2C1gene were amplified by polymerase chain reaction(PCR)and the products were analysed by single-strand conformation polymorphism(SSCP)and direct DNA sequencing.Results A novel mutation was identified in this family.The sequence of"TGTAGCCAT"(2068→2076)was substituded by"AGATGGAACA",which caused a frame shift of open reading frame and premature termination codon(PTC)in gene ATP2C1.There was no relationship between the genotypes and the phenotypes.Conclusion Gene mutation of ATP2C1gene at exon21is the cause for HHD in this fami-ly.

OBJECTIVE: To investigate the mechanism of myopia following intravitreous injection of MK801 (dizocipine maleate) intravitreous injected. METHODS: Three-week-old guinea pigs were divided into six groups: group A (control), group B (3 weeks form-deprivation in right eye), group C ( 3 weeks form-deprivation in right eye + saline), group D (3 weeks form-deprivation in right eye + MK801 1ng), group E (3 weeks form-deprivation in right eye + MK801 10 ng), group F (3 weeks form-deprivation in right eye + MK801 100 ng). The refraction and axial length of the eyes were measured. ncNOS was measured by hybridization in situ, and cyclic GMP (cGMP) concentrations by radioimmunochemistry. The correlation between MK801 concentration and diopter degree, axial length of the eyes, and levels of ncNOS or cyclic GMP were analyzed with linear correlation in the groups C-F. RESULTS: Diopter degree was decreased, axial eye length was shorted and levels of ncNOS and c-GMP were decreased in groups C, D, E and F dependent on the concentration of MK801. The diopter degree had positive correlation with MK801 concentration (r=0.702, P<0.05), while the axial eye length and the levels of ncNOS and cGMP were negatively correlated (r=-0.736, -0.637, -0.725, P<0.05) CONCLUSION MK801 injected into the vitreous humor can restrain myopia by down-regulated the expression of the nitric oxide-cyclic GMP signaling pathway. The effect is concentration dependent.
Animals ; Cyclic GMP ; metabolism ; Dizocilpine Maleate ; administration & dosage ; pharmacology ; Down-Regulation ; Female ; Form Perception ; physiology ; Guinea Pigs ; Injections, Intraocular ; Male ; Myopia ; physiopathology ; Nitric Oxide Synthase Type I ; metabolism ; Sensory Deprivation ; physiology ; Signal Transduction ; drug effects ; Vitreous Body ; drug effects

OBJECTIVE: To explore the expression of cyclic guanine monophosphate (cGMP) and the ultrastructure change in retina of guinea pig with form-deprivation myopia and the underlying mechanisms. METHODS: Three-weeks-old guinea pigs were distributed in 3 groups: an untreated group (Group I), a myopia 2-weeks group (Group II) and a myopia 3-weeks group (Group III), animals underwent monocular form-deprivation by facemask for 2 and 3 weeks. The right eyes were deprived and the left eyes were self-controlled. The refraction and axial length of the eyes was measured. Retina was observed by electron microscope. The expression of cGMP was detected by radioimmunochemistry. RESULTS: Deprived eyes in guinea pig showed significant development of myopia, the refraction and axial length was increased. The pathological changes in ultrastructure of retina were aggravated with the development of myopia. The expression of cGMP was significantly up-regulated in the deprived eyes compared with self-control eyes(P<0.05). CONCLUSION Form-deprivation can up-regulate the expression of cyclic GMP, which might play an important role in the development of myopia.
Animals ; Cyclic GMP ; metabolism ; Disease Models, Animal ; Female ; Guinea Pigs ; Male ; Myopia ; etiology ; metabolism ; pathology ; Random Allocation ; Retina ; metabolism ; ultrastructure ; Sensory Deprivation ; Vision, Monocular ; physiology