SPG4/SPAST, the gene-encoding spastin, is responsible for the most frequent form of autosomal dominant hereditary spastic paraplegia (HSP). SPG4-HSP is a heterogeneous disorder characterized by both interfamilial and intrafamilial variation, especially regarding the severity and the age at onset. In this study, we investigated the origin of the mutation and the factors involved in intra-familial heterogeneity in a family with a SPG4 mutation. We demonstrated that the mutation occurred de novo and show evidence of somatic mosaicism in the grandfather, who was the only affected member of six siblings. His disease began at age 55, much later than in his daughter, who had onset at age 18, and his grandson, in whom onset was at age 5. These observations indicate that de novo mutations can occur in SPG4, and that somatic mosaicism might account for intra-familial variation in SPG4-linked HSP.
A balanced reciprocal translocation t(Y;3)(q11.2q12) is detected in an azoospermic male, with a normal phenotype. Replication study shows no modification of the replication pattern of the bands of the rearranged chromosomes. Meiotic studies show a chain element at diakinesis. At the pachytene stage, the Y-body is in external contact with the sex vesicle. It is concluded that the integrity of the Y-chromosome is probably necessary for a normal meiotic process, and is more important than dosage effect due to complete or partial disomy of this chromosome.
The present study was carried out from in vitro fertilization (IVF) attempts to analyze further the total and specific protein contents of 47 follicular fluids yielding one oocyte. The aim was to find correlations between the follicular concentrations of such proteins and the occurrence of coupled oocyte cleavage. These findings would be used as markers of IVF outcome. Two groups of follicular samples were distinguished: one group with cleavage occurrence (25 cases) and another group without cleavage or even fertilization (22 cases). In the group with cleavage a significantly higher level was observed for six proteins: C3 complement fraction and ceruleoplasmin (P less than 0.02), alpha-antitrypsin and transferrin (P less than 0.01), and alpha 2-macroglobulin and beta 2-microglobulin (P less than 0.001). The data are discussed with respect to changes in follicle permeability with advancing maturity.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.