ABSTRACT
Primary familial brain calcification (PFBC) is an inherited neurodegenerative disorder mainly characterized by progressive calcium deposition bilaterally in the brain, accompanied by various symptoms, such as dystonia, ataxia, parkinsonism, dementia, depression, headaches, and epilepsy. Currently, the etiology of PFBC is largely unknown, and no specific prevention or treatment is available. During the past 10 years, six causative genes (SLC20A2, PDGFRB, PDGFB, XPR1, MYORG, and JAM2) have been identified in PFBC. In this review, considering mechanistic studies of these genes at the cellular level and in animals, we summarize the pathogenesis and potential preventive and therapeutic strategies for PFBC patients. Our systematic analysis suggests a classification for PFBC genetic etiology based on several characteristics, provides a summary of the known composition of brain calcification, and identifies some potential therapeutic targets for PFBC.
Subject(s)
Animals , Brain Diseases/therapy , Xenotropic and Polytropic Retrovirus Receptor , Brain/pathologyABSTRACT
Primary open angle glaucoma (POAG) is a complex and heterogeneous neurodegenerative disease caused by genetic and environmental factors,and it is also one of the leading causes of irreversible blindness worldwide.Recent molecular genetic studies revealed that numbers of susceptible gene variants are associated with POAG,and the researching technology includes genome wide association study and whole exon sequence.Studies of POAG families discovered 16 loci linked to the disease.To date,three genes were reported to be the causative genes of POAG,they are these studies MYOC,OPTN and WDR36.Other causative or presumably causative genes are thought to contribute to POAG,such as NTF4 and TBK1.Genetic factor for the path ogenesis POAG is being widely concerned,and provides a solid foundation for genetic research and gene therapy of this disease.In this paper,we reviewed a comprehensive discussion of the genetics and research strategies of POAG.
ABSTRACT
Paroxysmal kinesigenic dyskinesia (PKD) is the most frequently described subtype of paroxysmal dyskinesias.The precipitating factor is usually sudden movement or startle.Clinically,PKD cases suffer involuntary movements including unilateral or bilateral chorea,athetosis,dystonia or ballismus,with preserved consciousness.Family history is commonly noted in idiopathic PKD,but sporadic cases are also reported.Familial PKD is inherited in an autosomal dominant fashion with incomplete penetrance.To date,2 loci 16p11-q12 and 16q13-q22 have been mapped to PKD,although a 3rd locus is also suspected.PRRT2,which was located in 16p12.1,was recently identified as causative gene of PKD.However,culprit genes in the other 2 loci remain to be investigated.The potential mechanism of PKD remains largely unclear and the role of mutant PRRT2 in the pathogenesis of PKD is still unknown.In this review,the recent advances of PKD were summarized and hypothesis regarding the mechanisms of PKD was put up,which may make significant contributions to the diagnosis and treatment of PKD.
ABSTRACT
Objective To report a three-generation Chinese family with freckle and to make a genetic linkage analysis in this family.MethodsGenetic linkage analysis was carried out in this family using microsatellite markers distributed over chromosome 4q and 1.Two-point logarithm of odds(LOD)scores were calculated using the Linkage program package(version 5.1),and haplotype was analyzed with Cyrillic version 2.01 software.Results Freckle was inherited in an autosomal dominant pattern with a penetrance of99.9% in this family;linkage to chromosome 4q was ruled out however,supportive evidence was obtained for linkage to microsatellite markers D1S2635 and D1S2844 in chromosome 1q with a maximum LOD score of 1.50.Haplotype analysis in this family localized the locus of freckle to a 12 Mb region flanked by D1S2624 and D1S2799.Conclusions Freckle is a genetically heterogeneous disorder.The causative gene may be located in a 21.2 cM region on chromosome 1q22-24.