Thursday, July 28, 2016

Uncovering the cellular function of Torsins -- relevance to DYT1 dystonia

Grillet M, Dominguez Gonzalez B, Sicart A, Pöttler M, Cascalho A, Billion K, Hernandez Diaz S, Swerts J, Naismith TV, Gounko NV, Verstreken P, Hanson PI, Goodchild RE. Torsins Are Essential Regulators of Cellular Lipid Metabolism. Dev Cell. 2016 Jul 14. PMID: 27453503.

From the abstract: "Torsins are developmentally essential AAA+ proteins, and mutation of human torsinA causes the neurological disease DYT1 dystonia. They localize in the ER membranes, but their cellular function remains unclear. We now show that dTorsin is required in Drosophila adipose tissue, where it suppresses triglyceride levels, promotes cell growth, and elevates membrane lipid content. We also see that human torsinA at the inner nuclear membrane is associated with membrane expansion and elevated cellular lipid content. ... These findings identify that torsins are essential regulators of cellular lipid metabolism and implicate disturbed lipid biology in childhood-onset DYT1 dystonia."

Monday, July 25, 2016

Exploring the relationship of metals to Friedreich's ataxia

Soriano S, Calap-Quintana P, Llorens JV, Al-Ramahi I, Gutiérrez L, Martínez-Sebastián MJ, Botas J, Moltó MD. Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease. PLoS One. 2016 Jul 19;11(7):e0159209. PMID: 27433942.

From the abstract: "Friedreich's ataxia (FRDA), the most commonly inherited ataxia in populations of European origin, is a neurodegenerative disorder caused by a decrease in frataxin levels. One of the hallmarks of the disease is the accumulation of iron in several tissues including the brain, and frataxin has been proposed to play a key role in iron homeostasis. We found that the levels of zinc, copper, manganese and aluminum were also increased in a Drosophila model of FRDA, and that copper and zinc chelation improve their impaired motor performance. ... we identified that genes implicated in iron, zinc and copper transport and metal detoxification can restore frataxin deficiency-induced phenotypes. Taken together, these results demonstrate that the metal dysregulation in FRDA includes other metals besides iron, therefore providing a new set of potential therapeutic targets."

Monday, July 18, 2016

If it sickens flies, do I want it in me? Using Drosophila to assess toxicity of plant extracts

Júnior FE, Macedo GE, Zemolin AP, Silva GF, Cruz LC, Boligon AA, de Menezes IR, Franco JL, Posser T. Oxidant effects and toxicity of Croton campestris in Drosophila melanogaster. Pharm Biol. 2016 Jul 14:1-10. PMID: 27417881.

From the abstract:  "... Croton campestris ... is a species native to Northeast Brazil used by traditional communities for the treatment of a variety of health problems. ... The potential toxicity of the hydroalcoholic extract of C. campestris leaves on Drosophila melanogaster ... were analysed in this study. ... Our data show important toxicological effects of C. campestris leading to increased mortality and impaired locomotor performance accompanied by induction of cell stress markers in flies. The study draws attention to the indiscriminate use of plant extracts."