Elevated Oxidative Membrane Damage Associated with Genetic Modifiers of Lyst-Mutant Phenotypes

Elevated Oxidative Membrane Damage Associated with Genetic Modifiers of Lyst-Mutant Phenotypes

LYST is a large cytosolic protein that influences the biogenesis of lysosome-related organelles, and mutation of the encoding gene, LYST, can cause Chediak-Higashi syndrome. Recently, Lyst-mutant mice were recognized to also exhibit an iris disease resembling exfoliation syndrome, a common cause of glaucoma in humans. Here, Lyst-mutant iris phenotypes were used in a search for genes that influe...

Genetic modifiers of otocephalic phenotypes in Otx2 heterozygous mutant mice.

Mice heterozygous for the Otx2 mutation display a craniofacial malformation, known as otocephaly or agnathia-holoprosencephaly complex. The severity of the phenotype is dependent on the genetic background of a C57BL/6 (B6) strain; most of the offspring of Otx2 knock-out chimeras, which are equivalent to the F(1) of CBA and B6 strains, backcrossed with B6 females display reduction or loss of man...

Genetic pathways of Lyst and exfoliation syndrome

Human eyes with exfoliation syndrome (XFS) exhibit a distinctive pattern of iris transillumination defects that are recapitulated in Lyst mutant mice carrying the beige allele. Here I present the identification and characterization of the B6-Lyst mouse model of XFS, modifiers of Lyst mediated ocular phenotypes, mechanisms of intraocular pressure (IOP) pathology related to circadian rhythms, and...

Modifiers of Cardiac Phenotypes.

Lens membrane damage associated with cryoextraction.

The effects of cryoextraction on transport characteristics of rabbit lenses were evaluated by measuring Na+ and Ca++ levels, initial rates of 86Rb accumulation, and bioelectric potentials. The results demonstrate that membrane damage results from cryoextraction and is partially reversible during subsequent culture. While the decline in potential often exceeds 30 mV, maximum recovery of 80% occu...