Endogenous hydrogen sulfide overproduction in Down syndrome

Kamoun, P.; Belardinelli, Maria Cristina; Chabli, A.; Lallouchi, Karim; Chadefaux-Vekemans, Bernadette

doi:10.1002/ajmg.a.10847

Cited by 580 publications

(276 citation statements)

References 18 publications

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“…H 2 S equilibrates with aqueous sulphides (HS À and S 2 À ) in biological environments and has vital roles in various physiological and pathological processes, including vasorelaxation 5 , angiogenesis 6 , cerebral microcirculation 7 , neurotransmission 8,9 , inflammation 10 , apoptosis 11 , insulin signalling inhibition 12 , oxygen sensing 13 and energy production in mitochondria 14 . Meanwhile, the H 2 S levels are related to a number of diseases, such as Down syndrome 15 , Alzheimer disease 16 , hyperglycaemia 17 , ischaemia 18 and so on. To elucidate the complex behaviours of H 2 S in both healthy and disease states, it is crucial to measure H 2 S distribution in biological systems in real time.…”

Section: Doi: 101038/ncomms2722mentioning

confidence: 99%

Highly sensitive sulphide mapping in live cells by kinetic spectral analysis of single Au-Ag core-shell nanoparticles

et al. 2013

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Hydrogen sulphide (H 2 S) is a gaseous signalling agent that has important regulatory roles in many biological systems but remains difficult to measure in living biological specimens. Here we introduce a new method for highly sensitive sulphide mapping in live cells via singleparticle plasmonic spectral imaging that uses Au-Ag core-shell nanoparticles as probes. This strategy is based on Ag 2 S formation-induced spectral shifts of the nanoprobes, which is not only highly selective towards sulphide but also shows a linear logarithmic dependence on sulphide concentrations from 0.01 nM to 10 mM. A theoretical model was established that successfully explained the experimental observations, suggesting that the local sulphide concentration as well as its oscillations can be determined indirectly from kinetic measurements of the spectral shifts of the nanoprobes. We demonstrated for the first time the realtime mapping of local variations of sulphide levels in live cells with nM sensitivity.

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Section: Doi: 101038/ncomms2722mentioning

confidence: 99%

Highly sensitive sulphide mapping in live cells by kinetic spectral analysis of single Au-Ag core-shell nanoparticles

et al. 2013

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“…Moreover, sulfide ions can irritate mucous membranes and even have an extreme action on the nerve system, which cause unconsciousness and respiratory paralysis [17]. In addition, sulfide ions levels are related to various diseases, such as Alzheimer's disease [18], Down's syndrome [19], and liver cirrhosis [20]. Therefore, developing a rapid and sensitive method for monitoring sulfide ions is highly important to ensure human health safety.…”

Section: Introductionmentioning

confidence: 99%

Graphene quantum dots combined with copper(II) ions as a fluorescent probe for turn-on detection of sulfide ions

Peng

Xiong

et al. 2015

Microchim Acta

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A fluorescent probe for the sensitive and selective determination of sulfide ions is presented. It is based on the use of graphene quantum dots (GQDs) which emit strong and stable blue fluorescence even at high ionic strength. Copper(II) ions cause aggregation of the GQDs and thereby quench fluorescence. The GQDs-Cu(II) aggregates can be dissociated by adding sulfide ions, and this results in fluorescence turn on. The change of fluorescence intensity is proportional to the concentration of sulfide ions. Under optimal conditions, the increase in fluorescence intensity on addition of sulfide ions is linearly related (r 2 =0.9943) to the concentration of sulfide ions in the range from 0.20 to 20 μM, and the limit of detection is 0.10 μM (at 3 σ/s). The fluorescent probe is highly selective for sulfide ions over some potentially interfering ions. The method was successfully applied to the determination of sulfide ions in real water samples and gave recoveries between 103.0 and 113.0 %.

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“…Elevated hydrogen sulfide concentrations in fibroblasts and myoblasts have been found in patients with Down syndrome (trisomy 21) [31]. This may be related to over expression of the CBS gene located on chromosome 21 [31].…”

Section: What Are the Clinical Signs And Symptoms Of H 2 S Poisoning?mentioning

confidence: 99%

“…This may be related to over expression of the CBS gene located on chromosome 21 [31]. It is theorized that some of the neurological dysfunction in Down syndrome patients (such as impaired color perception, muscle hypotonia, and mental retardation) is due to the chronically elevated endogenous levels of hydrogen sulfide inhibiting synaptic responses [31].…”

Section: What Are the Clinical Signs And Symptoms Of H 2 S Poisoning?mentioning

confidence: 99%

Case files of the university of cincinnati fellowship in medical toxicology: Two patients with acute lethal occupational exposure to hydrogen sulfide

Policastro

Otten

2007

J. Med. Toxicol.

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We are presenting cases of 2 employees of a chemical plastics manufacturing plant who experienced acute, brief, inhalational exposure to lethal concentrations of hydrogen sulfide in a confined space. Eight other coworkers not present in the immediate exposure area also presented to local health care facilities with mild complaints of headache, nausea, and dizziness, but they suffered no significant sequelae.Patient #1 was a 55-year-old man who, while working in a confined space, uncoupled a nozzle from a steam pipe, collapsed within one minute, and suffered cardiopulmonary arrest. He had a prior history of asthma, hyperlipidemia, coronary artery disease, and was taking lisinopril, aspirin, and lipitor. Following chest compressions and rescue breathing, both by on-scene responders and EMS, the patient's blood pressure was 210/110 mmHg, the pulse was 100 bpm, and ventilation was assisted at 14/minute. On examination, the patient was minimally combative, with a Glasgow coma score of 6 (E1, V1, M4), with pupils 3 mm bilaterally and reactive to light. The patient had a small partial-thickness burn to the right chest, presumed to be a thermal burn from steam or the hot pipe. No cyanosis or pulmonary crackles were noted. Because of respiratory distress, the patient was intubated on-scene using fentanyl, diazepam, and vecuronium by the combined nurse-physician Air EMS flight team. Post-intubation vital signs were as follows: blood pressure 130/69 mmHg, pulse 95 bpm, respirations 14/min (assisted), and oxygen saturation 98% on 100% FiO 2 . The patient's temperature on arrival to the Emergency Department (ED) was 98.2°F (36.8°C), where his examination remained unchanged.Diagnostic studies were obtained in the ED. Arterial blood gas analysis on 100% O 2 showed: pH 7.24, pCO 2 58 mmHg, pO 2 284 mmHg, oxyhemoglobin 97.2%, deoxyhemoglobin 2.0%, methemoglobin 0.3%, and carboxyhemoglobin 0.0%. The blood appeared red. An electrocardiogram revealed a narrow complex tachycardia, without Q waves, ST-segment abnormalities, or interval changes. Serum chemistries were as follows: a sodium of 139 mEq/L, potassium of 4.2 mEq/L, chloride of 105 mEq/L, bicarbonate of 25 mEq/L, BUN of 15 mg/dL, creatinine of 0.9 mg/dL, and glucose of 156 mg/dL. Creatinine kinase (CK) was 299 IU/L, CK-MB 2.2 IU/L, and troponin-I was 0.05 IU/L. A complete blood count showed: white blood cells at 9.0 k/mm 3 , hemoglobin at 13.0 g/dL, hematocrit at 38.2%, and platelets at 130/mm 3 . Coagulation studies were normal, and a chest radiograph showed adequate endotracheal tube placement, absence of pulmonary edema, and a widened mediastinal silhouette, likely due to projection artifact on an antero-posterior film.Patient #2 was a 53-year-old male co-worker, with a history of hypertension, but he was not receiving medical therapy. He was

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Endogenous hydrogen sulfide overproduction in Down syndrome

Cited by 580 publications

References 18 publications

Highly sensitive sulphide mapping in live cells by kinetic spectral analysis of single Au-Ag core-shell nanoparticles

Highly sensitive sulphide mapping in live cells by kinetic spectral analysis of single Au-Ag core-shell nanoparticles

Graphene quantum dots combined with copper(II) ions as a fluorescent probe for turn-on detection of sulfide ions

Case files of the university of cincinnati fellowship in medical toxicology: Two patients with acute lethal occupational exposure to hydrogen sulfide

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