ScholarLens Back to search
1985•American Journal of Medical GeneticsRequires access

Red blood cell adenine nucleotides abnormalities in down syndrome

Vilberto Stocchi, Mauro Magnani, Luigi Cucchiarini, Giuseppe Novelli, Bruno Dallapiccola, John M. Opitz, James F. Reynolds

Open publisher page 13 citations

Abstract

The red blood cell adenine nucleotides of 20 Down Syndrome patients and 20 healthy controls were determined by a new high-performance liquid chromatography method. All patients showed increased concentrations of adenosine 5'-diphosphate (ADP) and adenosine 5'-monophosphate (AMP), while adenosine 5'-triphosphate (ATP), nicotinamide adenine dinucleotide (NAD+) and nicotinamide adenine dinucleotide phosphate (NADP+) were within normal ranges. This alternation of the energetic charge could be partly responsible for the impairment of glucose metabolism in these patients.

About this research paper

What this paper is about

The red blood cell adenine nucleotides of 20 Down Syndrome patients and 20 healthy controls were determined by a new high-performance liquid chromatography method. All patients showed increased concentrations of adenosine 5'-diphosphate (ADP) and adenosine 5'-monophosphate (AMP), while adenosine 5'-triphosphate (ATP), nicotinamide adenine dinucleotide (NAD+) and nicotinamide adenine dinucleotide phosphate (NADP+) were within normal ranges. This alternation of the energetic charge could be partly responsible for the impairment of glucose metabolism in these patients.

Why it matters

OpenAlex reports 13 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Available abstract

The red blood cell adenine nucleotides of 20 Down Syndrome patients and 20 healthy controls were determined by a new high-performance liquid chromatography method. All patients showed increased concentrations of adenosine 5'-diphosphate (ADP) and adenosine 5'-monophosphate (AMP), while adenosine 5'-triphosphate (ATP), nicotinamide adenine dinucleotide (NAD+) and nicotinamide adenine dinucleotide phosphate (NADP+) were within normal ranges. This alternation of the energetic charge could be partly responsible for the impairment of glucose metabolism in these patients.

Key concepts: Nicotinamide adenine dinucleotide, NAD+ kinase, Adenine nucleotide, Nicotinamide adenine dinucleotide phosphate, Nucleotide, Adenosine triphosphate, Adenosine diphosphate, Adenosine monophosphate

Related papers

Related paper 1Related paper 2Related paper 3
Back to paper searchBrowse research topicsOriginal source
Red blood cell adenine nucleotides abnormalities in down syndrome — Research Paper | ScholarLens