Profiles of amino acids and biogenic amines in the plasma of Cri-du-Chat patients

Furtado, Danielle Zildeana Sousa; Leite, Fernando Brunale Vilela de Moura; Barreto, Cleber Nunes; Faria, Bernadete; Jedlicka, Letícia Dias Lima; Silva, Elisângela de Jesus; Silva, Heron Dominguez Torres da; Bechara, Etelvino José Henriques; Assunção, Nilson Antônio

doi:10.1016/j.jpba.2017.03.034

Cited by 11 publications

(21 citation statements)

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“…According to the Lejeune Hypothesis, His excretion is related to the control of genes of the tubular reabsorption through the kidneys. This hypothesis might be strengthened by the results found by Furtado et al (), which showed a decrease in His in 5p− plasma samples. It is possible that the alteration of the genes responsible for the reabsorption of His in 5p− people avoids its absorption and is consequently excreted through the urine.…”

Section: Discussionmentioning

confidence: 70%

“…These enzymes function as antioxidants against the effects of oxidative stress (Weissbach et al, ) and in protein regulation and determination of lifespan (Moskovitz, ). An increase in MetO in 5p− plasma samples was observed (Furtado et al, ), suggesting redox imbalance. MetO has been related to neurodegenerative diseases such as Parkinson', Alzheimer' and Creutzfeldt–Jakob diseases (Moskovitz, ).…”

Section: Discussionmentioning

confidence: 95%

“…However, the Cit, Arg and Orn levels quantified in Lejeune patients did not allow the interpretation of urea cycle disturbances. However, another study showed (Furtado et al, ) alterations of Cit, Arg and Orn in 5p deletion patients, which imply possible disturbances involved in the urea cycle.…”

Section: Discussionmentioning

confidence: 96%

“…There have been few metabolomic studies in patients with 5p−; however, some studies showed an increase in amino acids such as proline, threonine (Thr) (Kühner, Büsse, & Buchinger, ), aspartate (Asp), asparagine (Asn) and histidine (His) in urine samples, and an increase in Asp and Asn in plasmatic samples (Lejeune et al, ). A recent study showed increases in methionine sulfoxide (MetO), serotonin and aspartic acid as well as a decrease in ornithine (Orn), citrulline (Cit), leucine (Leu), valine (Val), isoleucine (Ile), Asn, glutamine (Gln), tryptophan (Trp), Thr, His, phenylalanine (Phe), methionine (Met) and creatinine levels in the plasma of 5p− patients (Furtado et al, ).…”

Section: Introductionmentioning

confidence: 99%

“…A recent study showed increases in methionine sulfoxide (MetO), serotonin and aspartic acid as well as a decrease in ornithine (Orn), citrulline (Cit), leucine (Leu), valine (Val), isoleucine (Ile), Asn, glutamine (Gln), tryptophan (Trp), Thr, His, phenylalanine (Phe), methionine (Met) and creatinine levels in the plasma of 5p− patients (Furtado et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

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Targeted analysis reveals alteration in pathway in 5p minus individuals

Furtado

Leite

Jedlicka

et al. 2020

Biomedical Chromatography

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Cri du Chat or 5p minus (5p−) syndrome is characterized by a deletion located on the chromosome 5 short (−p) arm and has an incidence rate of 1 in 50,000 individuals worldwide. This disease manifests in disturbances across a range of systems biochemicals. Therefore, a targeted metabolomics analysis was evaluated in patients with 5p− syndrome to help unravel the biochemical changes that occur in this disease. Urine samples were collected from people of both sexes aged 1–38 years old and analyzed by ultra‐performance liquid chromatography coupled to mass spectrometry. Student' statistical test, metabolomic pathway analysis and metabolite set enrichment analysis were applied to the data. Alterations of some amino acids and amine biogenics levels were found in Cri du Chat Syndrome individuals. The alteration of most of these metabolites is associated with energy recuperation and glycolysis. In general, we found the catabolism of some metabolic pathways to be affected in 5p− patients.

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Section: Discussionmentioning

confidence: 70%