Applications of emerging stable isotopes and elemental markers for geographical and varietal recognition of Romanian and French honeys.

The research towards the identification of new authenticity markers is crucial to fight against fraudulent activities on honey, one of the top ten most falsified food commodities. This work proposes an association of stable isotopes and elemental content as markers for honey authentication, with respect to its floral and geographical origin. Emerging markers like isotopic signature of honey water alongside with carbon and hydrogen isotopic ratios of ethanol obtained from honey fermentation and Rare Earth Elements, were used to develop new recognition models.

Optimization of oxygen-18 ratio measurements by equilibration - Isotope ratio mass spectrometry using various water content matrices.

In the acknowledge method for the determination of oxygen isotope ratio from water, the oxygen-18 ratio (δO) quantification is performed on a relatively high amount of liquid solution. Recently, we proved that the oxygen-18 determinations can be made directly on a pasty matrix, using so called in situ measurements. In this paper, the accuracy of in situ measurements was demonstrated by the correspondence between δO values quantified in situ and those performed on the water, previously extracted from the pasty matrix itself.

Vine Water Deficit Impacts Aging Bouquet in Fine Red Bordeaux Wine.

The aim of this study was to investigate the influence of vine water status on bouquet typicality, revealed after aging, and the perception of three aromatic notes (mint, truffle, and undergrowth) in bottled fine red Bordeaux wines. To address the issue of the role of vine water deficit in the overall quality of fine aged wines, a large set of wines from four Bordeaux appellations were subjected to sensory analysis. As vine water status can be characterized by carbon isotope discrimination (δC), this ratio was quantified for each wine studied.

Use of Isotope Ratio Determination (13C/12C) to Assess the Production Method of Sparkling Wine.

The production of a sparkling wine can be performed with different methods taking from a few weeks to several years, which often justifies a difference in added value for the consumer. This paper presents the use of isotope ratio δ(13)C measurements combined with physico-chemical analyses for the determination of mislabelling of sparkling wines produced by 'ancestral', 'traditional', 'closed tank' or 'gasification' methods. This work shows that the isotope composition of CO(2) compared with that of the corresponding dried residue of wine (DRW) can assess whether carbonate CO(2) in a sparkling wine originates from alcohol fermentation or from artificial gas addition.

Comparative study of ¹³C composition in ethanol and bulk dry wine using isotope ratio monitoring by mass spectrometry and by nuclear magnetic resonance as an indicator of vine water status.

The potential of wine (13)C isotope composition (δ(13)C) is presented to assess vine water status during grape ripening. Measurements of δ(13)C have been performed on a set of 32 authentic wines and their ethanol recovered after distillation. The data, obtained by isotope ratio monitoring by mass spectrometry coupled to an elemental analyser (irm-EA/MS), show a high correlation between δ(13)C of the bulk wine and its ethanol, indicating that the distillation step is not necessary when the wine has not been submitted to any oenological treatment.

Potential of ion chromatography coupled to isotope ratio mass spectrometry via a liquid interface for beverages authentication.

New tools for the determination of characteristic parameters for food authentication are requested to prevent food adulteration from which health concerns, unfair competition could follow. A new coupling in the area of compound-specific carbon 13 isotope ratio (δ(13)C) analysis was developed to simultaneously quantify δ(13)C values of sugars and organic acids. The coupling of ion chromatography (IC) together with isotope ratio mass spectrometry (IRMS) can be achieved using a liquid interface allowing a chemical oxidation (co) of organic matter.

Authenticity of carbon dioxide bubbles in French ciders through multiflow-isotope ratio mass spectrometry measurements.

A procedure to detect whether carbon dioxide was added to French ciders has been developed. For this purpose, an optimised and simplified method is proposed to determine (13)C/(12)C isotope ratio of carbon dioxide (δ(13)C) in ciders. Three critical steps were checked: (1) influence of atmospheric CO2 remaining in the loaded vial, (2) impact of helium flush, (3) sampling speed.

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.

Hoyeraal-Hreidarsson syndrome (HHS), a severe variant of dyskeratosis congenita (DC), is characterized by early onset bone marrow failure, immunodeficiency and developmental defects. Several factors involved in telomere length maintenance and/or protection are defective in HHS/DC, underlining the relationship between telomere dysfunction and these diseases. By combining whole-genome linkage analysis and exome sequencing, we identified compound heterozygous RTEL1 (regulator of telomere elongation helicase 1) mutations in three patients with HHS from two unrelated families.

Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.

Ataxia telangiectasia-mutated (ATM) and ataxia telangiectasia and Rad3-related (ATR) kinases are two key regulators of DNA-damage responses (DDR) that are mainly activated in response to DNA double-strand breaks and single-stranded DNA damages, respectively. Seckel syndrome, a rare genetic disorder characterized by a microcephaly and a markedly reduced body size, has been associated with defective ATR-dependent DNA damage signaling. However, the only human genetic ATR defect reported so far is a hypomorphic splicing mutation identified in five related individuals with Seckel syndrome.

Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.

Background: Telomeres represent the tips of linear chromosomes. In human subjects telomere maintenance deficiency leads to dyskeratosis congenita (DC), a rare genetic disorder characterized by progressive bone marrow failure, accelerated aging, and cancer predisposition. Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with microcephaly, cerebellar hypoplasia, and growth retardation.

Intrinsic ratios of glucose, fructose, glycerol and ethanol 13C/12C isotopic ratio determined by HPLC-co-IRMS: toward determining constants for wine authentication.

High-performance liquid chromatography linked to isotope ratio mass spectrometry (HPLC-co-IRMS) via a Liquiface© interface has been used to simultaneously determine (13)C isotope ratios of glucose (G), fructose (F), glycerol (Gly) and ethanol (Eth) in sweet and semi-sweet wines. The data has been used the study of wine authenticity. For this purpose, 20 authentic wines from various French production areas and various vintages have been analyzed after dilution in pure water from 20 to 200 times according to sugar content.

Quantification method and organoleptic impact of added carboxymethyl cellulose to dry white wine.

Following the resolution Oeno 2-2008 of the OIV, "Organisation Internationale de la Vigne et du Vin", the addition of carboxymethyl cellulose (CMC) in wines at a concentration lower than 100 mg L-1 is authorized in the EU (RCE 606-2009). In order to control this level, a method has been elaborated to quantify CMC addition at the maximum limit authorized. It is based on the absorbance level of a coloured complex obtained by the addition of a solution of 2,7-dihydronaphthalene in concentrated sulfuric acid to a dry white wine that has been dialyzed; the proposed method has a quantification limit of 60 mg L-1 with a 40 mg L-1 uncertainty.

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome.

Telomeres, the protein-DNA complexes at the ends of linear chromosomes, are protected and regulated by the shelterin molecules, the telomerase complex, and other accessory factors, among which is Apollo, a DNA repair factor of the beta-lactamase/beta-CASP family. Impaired telomere protection in humans causes dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome, characterized by premature aging, bone marrow failure, and immunodeficiency. We identified a unique Apollo splice variant (designated Apollo-Delta) in fibroblasts from a patient with HH syndrome.