Chronic kidney disease (CKD) is the gradual failure of the kidneys’ blood filtering mechanism, requiring dialysis or kidney transplantation in its most severe of stages.
In children about half of CKD is attributed to congenital anomalies of the kidney and urinary tract (CAKUT). CAKUT are a range of structural renal malformations that originate as a result of disturbances during embryonic kidney development.
They are present from birth (hence the term, ‘congenital’), and include among others: renal agenesis, when one is born with a single kidney; and horseshoe kidney.
Prenatal ultrasound screening has greatly improved the diagnosis of patients with CAKUT. Early diagnosis is crucial to minimise kidney damage. However, to date little is known about the causes of CAKUT which can help prevent them.
Current knowledge explains only about 20 per cent of CAKUT cases. A number of studies on familial forms and using mouse models have implicated genetic factors in the development of the disease. It is believed that the majority of CAKUT are caused by the dysfunction of genes involved in kidney development. Genes are sequences of DNA by which genetic information is passed from parent to offspring. Variations in the DNA sequence can lead to diseases.
Our team has sought to better understand the cause of CAKUT in 10 unrelated Maltese patients using advanced molecular genetic technologies. The patients form part of a larger kidney disease cohort at the Malta BioBank (BBMRI.mt) who gave their consent to participate in medical research.
Preliminary analysis of 96 known CAKUT-causing genes identified likely pathogenic variations in only one of the 10 patients. While further analysis is warranted, our results reaffirm the findings of other researchers in that the genetic background of CAKUT may be more complex than previously thought.
Esther Zammit carried out this research as part of a Master of Science degree in Biochemistry at the Faculty of Medicine & Surgery (University of Malta) under the supervision of Dr Valerie Said Conti and Prof. Alex Felice. The project has set up the basis for genetic research in congenital renal malformations in Maltese patients. The research work disclosed in this publication was partially funded by the Endeavour Scholarships Scheme (Malta).
This research has also received funding from LifeCycle (Malta) Foundation through the University of Malta Research Trust (RIDT).
Sound bites
• The first example of “nest”-building in an African amphibian, the Goliath frog, has been described in a new article in the Journal of Natural History, and could explain why they have grown to be giant. Researchers observed adult Goliath frogs in the wild and found that they move rocks weighing up to 2kg while building ponds for their young, which they then guard. Goliath frogs themselves weigh up to 3.3kg and their bodies reach over 34cm, without including their legs. “Goliath frogs are not only huge, but our discovery shows they seem to be attentive parents as well,” says author Marvin Schäfer from the Berlin Natural History Museum. “The little ponds they make at the edges of fast-flowing rivers provide their eggs and tadpoles with a safe haven from sometimes torrential waters, as well as from the many predators living there. We think that the heavy work they put into excavation and moving rocks may explain why gigantism evolved in these frogs in the first place.”
https://www.sciencedaily.com/releases/2019/08/190808213531.htm
• Scientists have sequenced the avocado genome, shedding light on the ancient origins of this buttery fruit and laying the groundwork for future improvements to farming. With regard to modern affairs, the study reveals for the first time that the popular Hass avocado inherited about 61 per cent of its DNA from Mexican varieties and about 39 per cent from Guatemalan ones. Avocados come in many types, but Hass – first planted in the 1920s – comprises the bulk of avocados grown around the world. The research also provides vital reference material for learning about the function of individual avocado genes, and for using genetic engineering to boost productivity of avocado trees, improve disease resistance and create fruit with new tastes and textures.
https://www.sciencedaily.com/releases/2019/08/190806131446.htm
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Did you know?
• The avarage human body has enough iron in it to forge a metal nail that is 7.6 centimetres long,
• ... enough sulfur to kill all fleas on a dog,
• ... enough carbon to make 900 pencils,
• ... enough potassium to fire a toy cannon,
• ... enough fat to make seven bars of soap,
• ... enough phosphorous to make 2,200 match heads.
For more trivia see: www.um.edu.mt/think