Institute of Opthalmology

Grant Award to the Institute of Opthalmology and Moorfields Eye Hospital

Penny Lancaster, Patron of the Lowe Syndrome Trust presents research grant to the Institute of Ophthalmology, London

Penny Lancaster, met Dr Tim Levine , Lecturer in Cell Biology at the Institute of Ophthalmology , University College London.  Together with clinical colleagues at Moorfields Eye Hospital , they will be tackling a rare genetic disease thanks to funds from the charity the Lowe Syndrome Trust.

Ms Lancaster was delighted to hand over a cheque for £50,000 to Dr Levine, which will fund a three year research project entitled “The Cell Biology of the Effects of Lowe Syndrome in the Eye”.

Lowe Syndrome is a rare incurable disorder that affects only boys and produces congenital cataracts in the lens of both  eyes, muscle weakness, weak bones, kidney and brain development problems. Sadly life expectancy is short.

The disease was first recognised in 1952 by Dr Charles Lowe, and is caused by a gene mutation which makes a defective version of an enzyme named OCRL1, which is needed for normal function of tissues like the lens, brain and kidney, although the reasons for this are still quite unclear.

The Lowe Syndrome Trust was set up by Lorraine Thomas as a voluntary charity in June 2000 when her son, Oscar (then aged 5), was diagnosed with the disease.

Mrs Thomas, chair of the Trust says: “We were devastated when Oscar was diagnosed with the syndrome at the age of 5. All of the children are partially sighted or blind due to cataracts and some never ever walk. Even Lowe children (boys only) who are doing quite well with the disease, sadly deteriorate with the condition and most die in their teens. I am so grateful for the research being carried out at the Institute of Ophthalmology , which will study how Lowe Syndrome produces cataracts. The aim of the Trust is to raise awareness and funding for research projects that will one day lead to treatments and some increased hope for these boys”.

Penny Lancaster  said “I am delighted to be Patron of the Trust and help raise awareness of the disease and the need for future funding for research”

July 2005 Grant Award to Moorfields Eye Hospital / Institute of Opthalmology

The Lowe Syndrome Trust (a small voluntary charity), is delighted to announce an award of £50,000 to Dr T Levine, Lecturer in Cell Biology, Institute of Ophthalmology, Moorfields, London for a Lowe Syndrome research project entitled “Cell Biological Analysis OCRL1 in human lens epithelial cells.This will be the first research of its kind looking at how Lowe syndrome causes cataracts leading to blindness.Quote from Moorfields Childrens Eye Hospital:

“You cannot sit here, week after week, seeing children without wanting to improve the chances of saving their sight. I get frustrated, not because we cannot find answers, but because I know we will. But I want those treatments now. I know we could change the destiny of many more children here and around the world.”

Publications by Dr T Levine

1. Levine T.P. and Munro S. (2001) Dual targeting of Osh1p, a yeast homologue of oxysterol-binding protein, to both the Golgi and the nucleus-vacuole junction. Mol Biol Cell 12:1633-1644. abstract

2. Levine T.P. and Munro S. (2002) Targeting of Golgi-specific pleckstrin homology domains involves both PtdIns 4-kinase-dependent, and independent, components Current Biology 12:695-704. abstract

3. Loewen C.J.R., Roy A. and Levine T.P. (2003)  A conserved ER targeting motif in three families of lipid binding proteins and in Opi1p binds VAP. EMBO J 22:2025-2035. abstract

4. Loewen C.J.R., Gaspar, M.G., Jesch S.A. , Delon C., Ktistakis N.T., Henry S.A.  and Levine T.P. (2004) Phospholipid metabolism in yeast is regulated by Opi1p binding to phosphatidic acid. Science 304:1644-1647. abstract

5. Roy, A. and Levine T.P. (2004) Altered intracellular distribution of PtdIns 4-phosphate detected using the pleckstrin homology domain of Osh2p. J. Biol. Chem. M401583200. abstract

FURTHER READING

6. Levine T.P. (2004)  Membrane contact sites, a network for short-range intracellular communication. Trends in Cell Biology 9:483-490. abstract

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Layman’s Summary 2006

Previous studies have shown that cells lacking the Lowe Syndrome protein OCRL1 are altered, but the differences have been hard to trace in detail. One thing that has been known for some time is that the levels of a highly active molecule called PIP2 rise, however it has not been shown previously where the PIP2 is. Normally PIP2 is on the external (plasma) membrane of cells, and this might be where the extra molecules also build-up. Alternatively, the extra PIP2 might be on internal membranes inside cells. As part of an ongoing project to look at how lack of OCRL1 affects the development of lens cells, we have developed a technique that detects some of this PIP2 for the first time in the internal parts of living cells. Our next goal is to apply this to lens cells.