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Dr Elena Tucker has brought peace of mind to families affected by rare energy disorders. She’s found genes responsible for some of these diseases.
Now, with the support of her 2014 L’Oréal For Women in Science Fellowship, she will look at hundreds of individual genomes to determine the causes of sex-determination disorders.
For the thousands of families affected by these rare disorders Elena’s work provides an understanding of the causes and opens a path to management and to potential treatments one day. And the techniques she’s developing underpin the broader development of personalised medicine.
For her PhD, Elena used high-throughput DNA sequencing to investigate the genetics of mitochondrial disease. Mitochondria are the membranous structures in the cell where food is converted into the energy that powers our bodies. Anything that disables them, such as the mutation of a gene, robs the body of the energy it needs to function. This can lead to symptoms such as seizures, muscle weakness, developmental delays, liver dysfunction, heart failure or blindness.
Elena discovered four genes, and helped in finding an additional four, within which mutations have a direct link to such conditions. This has accounted for a significant proportion of new genetic diagnoses of mitochondrial disease.
The Australian Academy of Science recognised five individuals for their career achievements in 2013.
The misfolded proteins then clump together and form sticky, cell-damaging deposits called plaques.
“We know that mitochondria are at the centre of the aging process,” says Prof Nick Hoogenraad, executive director of the La Trobe Institute for Molecular Science (LIMS). Nick and his team have found a mechanism mitochondria use to remove the plaques that are prone to form as we age.
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