Ribonuclease activity and polysome profile in human senile cataract

Maione, M; Maraini, G; Carta, Francesco

doi:10.1016/s0014-4835(68)80007-7

Cited by 9 publications

(3 citation statements)

References 5 publications

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“…This observation seems to exclude a relevant role of this enzyme in decreasing the protein synthesis in these lenses through increased RNA degradation. In agreement with previous data [8], RNase activity was absent in clear postmortem lenses, whereas it was present in all cataractous lenses, al though the results were highly scattered (0.32 ± 0.36 A E/h/lens).…”

Section: Resultssupporting

confidence: 93%

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Biochemical Correlations During the Senile Opacification of the Human Lens

1981

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The levels of Na⁺, K⁺, Ca⁺⁺, ribonuclease activity, soluble and insoluble proteins have been determined in unselected senile cataractous human lenses and in non-cataractous postmortem lenses. The lenses were classified according to increasing opacification of the cortex after in vivo slit-lamp examination, and on the basis of increasing pigmentation of the nucleus of the extracted lens. The results indicate that alterations in the level of lenticular cations correlate very significantly with the degree of opacification of the lens cortex and with the progressive decrease in soluble proteins. Increased lens Na⁺ was found to be the most reliable biochemical index of cortical opacification. Increased water-insoluble proteins are essentially associated with the opacification and darkening of the lens nucleus. On a per lens basis, the increase in insoluble proteins is not correlated with the absolute decrease in soluble proteins.

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Section: Resultssupporting

confidence: 93%

“…They include increased Na+ and Ca++ and decreased K+ levels, increased lens hydration, reduced protein content with an accumulation of insoluble pro teins, disappearance of ribonucléase inhibitor [8,12] and a brown colora tion of the lens corresponding to a progressive involvement of the nucleus.…”

Section: Introductionmentioning

confidence: 99%

Biochemical Correlations During the Senile Opacification of the Human Lens

1981

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“…We therefore note with interest that RNases have been reported to be involved in the development of cataracts. In normal human and animal lenses, no RNase activity is detected but senile cataracts is accompanied by an increase in RNase activity [32]. Very high levels of RNase inhibitor in normal lenses explain the total absence of RNase activity [33], but these levels decreased profoundly with development of cataracts, both in senile cataracts in humans and in experimental cataracts in rats, concomitant with increased RNase activities [33].…”

Section: Discussionmentioning

confidence: 99%

Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia

et al. 2023

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Ribonuclease inhibitor 1, also known as angiogenin inhibitor 1, encoded by RNH1, is a ubiquitously expressed leucine-rich repeat protein, which is highly conserved in mammalian species. Inactivation of rnh1 in mice causes an embryonically lethal anemia, but the exact biological function of RNH1 in humans remains unknown and no human genetic disease has so far been associated with RNH1. Here, we describe a family with two out of seven siblings affected by a disease characterized by congenital cataract, global developmental delay, myopathy and psychomotor deterioration, seizures and periodic anemia associated with upper respiratory tract infections. A homozygous splice-site variant (c.615-2A > C) in RNH1 segregated with the disease. Sequencing of RNA derived from patient fibroblasts and cDNA analysis of skeletal muscle mRNA showed aberrant splicing with skipping of exon 7. Western blot analysis revealed a total lack of the RNH1 protein. Functional analysis revealed that patient fibroblasts were more sensitive to RNase A exposure, and this phenotype was reversed by transduction with a lentivirus expressing RNH1 to complement patient cells. Our results demonstrate that loss-of-function of RNH1 in humans is associated with a multiorgan developmental disease with recessive inheritance. It may be speculated that the infection-induced deterioration resulted from an increased susceptibility toward extracellular RNases and/or other inflammatory responses normally kept in place by the RNase inhibitor RNH1.

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Physiological Chemistry of the Eye

Gw¹

1973

Archives of Ophthalmology

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Ribonuclease activity and polysome profile in human senile cataract

Cited by 9 publications

References 5 publications

Biochemical Correlations During the Senile Opacification of the Human Lens

Biochemical Correlations During the Senile Opacification of the Human Lens

Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia

Physiological Chemistry of the Eye

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