Genetics: Gene therapy success for beta-thalassaemia

Summaries of newsworthy papers include: Fewer Arctic hurricanes in a warmer world; Toxic double act; Road to ruin Serengeti; Extremophiles produce energy by unusual means; Spin quantum jumps in real time; Twisted electron beams on demand; Ice protection

This press release contains:

· Summaries of newsworthy papers:

Genetics: Gene therapy success for beta-thalassaemia

Climate: Fewer Arctic hurricanes in a warmer world

Biology: Toxic double act

Opinion: Road to ruin Serengeti

Biology: Extremophiles produce energy by unusual means

Quantum computing: Spin quantum jumps in real time

Physics: Twisted electron beams on demand

And finally… Ice protection

· Mention of papers to be published at the same time with the same embargo

· Geographical listing of authors

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[1] Genetics: Gene therapy success for beta-thalassaemia (pp 318-322; N&V)

Gene therapy may help patients with the inherited blood disease beta-thalassaemia to escape the need for regular blood transfusions, a Nature paper suggests.

Haemoglobin disorders, such as beta-thalassaemia, are the most common monogenic disorders. Beta-thalassaemia patients require regular blood transfusions to boost abnormally low levels of beta-globin. But one year after treatment commenced, the first beta-thalassaemia patient to be fully treated with beta-globin gene therapy was able to stop receiving transfusions. The adult, who had been dependent on monthly transfusions since early childhood, has remained transfusion independent for the past 21 months, Philippe Leboulch and colleagues report.

One potential side effect is reported: the vector used to insert the beta-globin DNA seems to have altered the expression of a gene that controls the behaviour of blood stem cells, causing a mild, benign expansion of these cells. The effect may be responsible for much of the therapeutic benefit, but it is possible that it could also be a prelude to malignancies. Further patient studies are needed to weigh up the possible pros and cons of this treatment option.

Author contact
Philippe Leboulch (Brigham & Women's Hospital and Harvard Medical School, Boston, MA, USA)
Tel: +1 617 525 4740
E-mail: [email protected]

Derek Persons (St Jude Children’s Research Hospital, Memphis, TN, USA) N&V author
Tel: +1 901 495 2146
E-mail: [email protected]

[2] Climate: Fewer Arctic hurricanes in a warmer world (pp 309-312)

At least one form of extreme weather is likely to become rarer in a future warmer climate, according to a report in this week’s Nature. Matthias Zahn and Hans von Storch use regional climate simulations to show that the severe North Atlantic storms known as ‘polar lows’, often resembling Arctic hurricanes, may decrease in frequency by as much as 50% by the end of this century.

It has become commonplace to state that a warmer climate will bring an increased frequency of extreme weather events, such as heatwaves or intense precipitation. Polar lows are small-scale but severe winter storms that threaten offshore human activities in the northern North Atlantic region. Zahn and von Storch studied the formation of polar lows in a series of regional climate simulations corresponding to different possible future climates.

In projections for the end of this century, assuming a range of elevated atmospheric greenhouse gas concentrations, the authors found a significantly lower frequency of polar lows, compared to a late-twentieth-century control simulation. The authors attribute this effect to a greater increase in temperature in the lower atmosphere than at the surface of the North Atlantic: the resulting decrease in vertical temperature gradient stabilizes the atmosphere, hindering the formation or intensification of polar lows.

Author contact:
Matthias Zahn (University of Reading, UK)
Tel: +44 118 378 5173
E-mail: [email protected]

[3] Biology: Toxic double act (AOP)
DOI: 10.1038/nature09397

***This paper will be published electronically on Nature's website on 15 September at 1800 London time / 1300 US Eastern Time (which is also when the embargo lifts) as part of our AOP (ahead of print) programme. Although we have included it on this release to avoid multiple mailings it will not appear in print on 16 September, but at a later date. ***
Both of the major toxins produced by the diarrhoea-causing bacterium Clostridium difficile have a crucial role in infection, a Nature study suggests.

C. difficile produces two key toxins, toxin A and toxin B. Nigel Minton and colleagues now show that mutant strains of C. difficile producing either toxin A or toxin B alone can cause disease in hamsters.

The relative importance of these two toxins has been widely debated, with various studies implicating toxin A but not B, or toxin B but not A, in pathogenesis. With C. difficile being the leading cause of healthcare-linked diarrhoea in Europe and North America, effective therapies will need to target both of these bacterial toxins, the study suggests.

Author contact:
Nigel Minton (University of Nottingham, UK)
Please note this author is travelling.
Tel: +44 115 8467458
E-mail: [email protected]

Stephen Cartman (University of Nottingham, UK)
Tel: +44 115 846 7959
E-mail: [email protected]

Opinion: Road to ruin Serengeti (pp 272-273)

Plans for building a two-lane commercial road through 50 kilometres of the Serengeti National Park in Tanzania must be halted. In an Opinion piece in Nature this week, Andrew Dobson and 26 conservation luminaries detail the damage such a road could wreak.

The authors warn that the road will cause an environmental disaster, primarily by curtailing the migration of 1.3 million wildebeest. The resultant drop in herbivore numbers — from millions to hundreds of thousands, they estimate — could precipitate ecosystem collapse and wild fires, dent tourism income and perhaps even cause the system to “flip from being a carbon sink into a major source of atmospheric carbon dioxide”. Citing modelling data and experiences in other disrupted ecosystems, the group says “there is an alternative to driving the road through the World Heritage Sites of the Serengeti National Park, where humans took their first recorded steps”. A road to the south of the park “would minimize environmental and economic damage and maximize benefits to human development and infrastructure”.

An accompanying editorial will run in this issue.

Author contact:
Andrew Dobson (Princeton University, NJ, USA)
Tel: +1 609 213 0341
E-mail: [email protected]

[4] Biology: Extremophiles produce energy by unusual means (pp 352-355)

Heat-loving, hydrothermal vent-dwelling microbes can generate energy by one of the simplest anaerobic respirations described to date — the oxidation of formate to bicarbonate and hydrogen.

Several species of Thermococcus use the reaction to generate ATP, Sung Gyun Kang and colleagues demonstrate in this week’s Nature — a surprising result because formate oxidation was not thought to be energetic enough to support the growth of microorganisms.

The team also identify the genes responsible for formate-driven growth and propose a molecular mechanism by which one strain, Thermococcus onnurineus, generates energy.

Author contact:
Sung Gyun Kang (Korea Ocean Research & Development Institute, Seoul, Republic of Korea)
Tel: +82 31 400 6241
E-mail: [email protected]

[5] Quantum computing: Spin quantum jumps in real time (pp 297-300; N&V)

Real time detection of single quantum dots that doesn’t interfere with their spin is realised this week in Nature. In showing for the first time that it is possible to observe spin quantum jumps, the authors present a promising approach to realising a practical qubit scheme for quantum computation.

Rapid progress towards the reliable preparation and manipulation of the quantum states of such spins has been achieved in recent years. The final challenge is to carry out 'single-shot' measurements of the electron spin without interfering with it. Mete Atatüre and colleagues’ technique enables such a measurement, by coupling the quantum dot to another.

As the authors show, this quantum dot 'molecule', unlike its single quantum dot counterpart, allows separate and independent optical transitions for state preparation, manipulation and measurement, avoiding the dilemma of relying on the same transition to address the spin state of an electron.

Author contact:
Mete Atatüre (University of Cambridge, UK)
Tel: +44 1223 766298
E-mail: [email protected]

Mikhail Lukin (Harvard University, Cambridge, MA, USA) N&V author
Tel: +1 617 495 2862
E-mail: [email protected]

[6] Physics: Twisted electron beams on demand (pp 301-304)

A practical method for creating electron beams with a spiralling wavefront is reported this week in Nature. The ability to generate these ‘vortex beams’ reproducibly, in a conventional electron microscope, will enable many new applications, notably a way to map the local magnetic state of a material with atomic resolution.

Vortex beams of photons have long been available, but the first electron vortex beams were produced only earlier this year, when Masaya Uchida and Akira Tonomura identified a spiral-like structure in thin-film graphite that imparted a twist to an electron beam passing through it (Nature 464, 737–739; 2010). In principle, such a structure could be made to order, but this would require nanometre-scale machining — which is difficult to do, and even harder to reproduce.

Now Jo Verbeeck and colleagues have taken a different approach to producing electron vortex beams, based on computer-generated holograms. The authors compute a hologram that, when illuminated with a plane wave of electrons, will produce the desired spiralling wave. The hologram is then transformed into a binary mask, comprising transparent and opaque regions. This mask, with dimensions of micrometres rather than nanometres, can be easily and reproducibly made from a thin platinum foil by ion-beam thinning.

Having produced an electron vortex beam in this way, the authors use it to measure a magnetically induced effect called circular dichroism — demonstrating the potential of these beams for magnetic microscopy, and for a host of other applications.

Author contact:
Jo Verbeeck (University of Antwerp, Belgium)
Tel: +32 3 2653249
E-mail: [email protected]

[7] And finally… Ice protection (pp 313-317; N&V)

Glaciers in the southern Patagonian Andes have shielded the mountains from erosional forces over recent geological history, finds a Nature paper. The research is surprising because glaciers usually wear mountains down.

Glacial erosion effectively controls mountain height, producing spectacular jagged mountain peaks. Glaciers are thought to be so powerful that they can prevent mountains from rising significantly above the elevation of permanent glaciation — a process known as the glacial ‘buzzsaw’.

Stuart Thomson and colleagues collected mineral samples across the length of the Patagonian Andes — a high-latitude mountain belt with recent tectonic uplift. They then used a radiometric technique to date the minerals and evaluate the patterns of erosion. They discovered an increase in the age of the rocks as they moved southward, which corresponded with a decrease in the long-term glacial erosion efficiency. At warmer latitudes, glaciation still acts destructively to limit mountain elevation, but further south, the glaciation protects the landscape, resulting in a growth in mountain height and width.

The authors suggest that glaciation in these southerly regions acts like armour to protect the uplifting mountains from erosion, allowing them to reach heights well above those predicted by the glacial ‘buzzsaw’ theory.

Author contact:
Stuart Thomson (University of Arizona, Tucson, AZ, USA)
Tel: +1 520 301 6930
E-mail: [email protected]

Jean Braun (Université Joseph Fourier, Grenoble, France) N&V author
Tel: +33 4 7651 4074
E-mail: [email protected]

ALSO IN THIS ISSUE…

[8] Notch and EGFR pathway interaction regulates neural stem cell number and self-renewal (pp 323-327)

[9] Inhibition of follicular T-helper cells by CD8+ regulatory T cells is essential for self tolerance (pp 328-332)

[10] Unexpected requirement for ELMO1 in clearance of apoptotic germ cells in vivo (pp 333-337)

ADVANCE ONLINE PUBLICATION

***These papers will be published electronically on Nature's website on 15 September at 1800 London time / 1300 US Eastern Time (which is also when the embargo lifts) as part of our AOP (ahead of print) programme. Although we have included them on this release to avoid multiple mailings they will not appear in print on 16 September, but at a later date. ***

[11] Genome-wide analysis of a long-term evolution experiment with Drosophila
DOI: 10.1038/nature09352

[12] In vivo imaging of labelled endogenous beta-actin mRNA during nucleocytoplasmic transport
DOI: 10.1038/nature09438

[13] Direct visualization of secondary structures of beta-actin by electron cryomicroscopy
DOI: 10.1038/nature09372

GEOGRAPHICAL LISTING OF AUTHORS…

The following list of places refers to the whereabouts of authors on the papers numbered in this release. For example, London: 4 - this means that on paper number four, there will be at least one author affiliated to an institute or company in London. The listing may be for an author's main affiliation, or for a place where they are working temporarily. Please see the PDF of the paper for full details.

AUSTRIA
Vienna: 6

BELGIUM
Antwerp: 6

CHILE
Santiago: 7

CHINA
Hangzhou: 9
Hefei: 5

FRANCE
Créteil: 1
Fontenay-aux-Roses: 1
Paris: 1

GERMANY
Geesthacht: 2
Hamburg: 2
Heidelberg: 5

ITALY
Trieste: 1

JAPAN
Kyoto: 4
Osaka: 13

NETHERLANDS
Delft: 12

REPUBLIC OF KOREA
Ansan: 4
Daejeon: 4

RUSSIA
Moscow: 4

SWEDEN
Lund: 5

UNITED KINGDOM
Cambridge: 5
Nottingham: 3
Reading: 2

UNITED STATES OF AMERICA
Arizona
Tucson: 7

California
Irvine: 11

Connecticut
New Haven: 7

District of Columbia
Washington: 8

Illinois
Urbana: 7

Indiana
Indianapolis: 1

Massachusetts
Boston: 1, 9
Cambridge: 1

New York
Bronx: 12
New York: 1
Rochester: 5
Stony Brook: 8

Pennsylvania
Philadelphia: 1
Pittsburgh: 8

Virginia
Charlottesville: 10

PRESS CONTACTS…

From North America and Canada
Neda Afsarmanesh, Nature New York
Tel: +1 212 726 9231
E-mail: [email protected]

From Japan, Korea, China, Singapore and Taiwan
Mika Nakano, Nature Tokyo
Tel: +81 3 3267 8751
E-mail: [email protected]

From the UK
Rebecca Walton, Nature, London
Tel: +44 20 7843 4502
E-mail: [email protected]

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Published: 15 Sep 2010

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