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Metabolomics and Genetics of Rare Endocrine Disease: Adrenal, Parathyroid Glands, and Cystic Fibrosis

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Clinical Metabolomics Applications in Genetic Diseases

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Abstract

Recent advances in metabolomic technologies and methodologies have identified significant metabolites related to rare endocrine disease conditions of the adrenal gland (hyperaldosteronism, primary adrenal insufficiency), parathyroid (hypoparathyroidism), and cystic fibrosis. Metabolomic profiling combined with genomics is increasingly being employed for improving understanding, clinical diagnosis, and management of these clinically challenging conditions. Advances in gas and liquid chromatography combined with tandem mass spectrometry (GC/LC–MS/MS) techniques have improved the profiling of steroid metabolites. Significant alterations in levels of these metabolites demonstrate the potential to serve as specific markers of disease, help in their stratification, and contribute toward moving to personalized medicine.

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Abbreviations

ATP1A1:

ATPase Na+/K + -transporting subunit alpha 1

ATP2B3:

ATPase plasma membrane Ca2+ transporting 3

CACNA1H:

Calcium voltage-gated channel subunit alpha 1 H

CACNA1H:

Calcium voltage-gated channel subunit alpha 1 H

CASR:

G protein-coupled calcium-sensing receptor

CCND1/PRAD1:

Cyclin D1

CDKN1C:

Cyclin-dependent kinase inhibitor 1C

CFTR:

CF transmembrane conductance regulator

CHD7:

Chromodomain helicase DNA binding protein 7

CLCN2:

Chloride voltage-gated channel 2

CSDE1:

Cold shock domain-containing E1

CTNNB1:

Catenin beta 1

CYP11B2:

Cytochrome P450 family 11 subfamily B member 2

DAX-1 (NR0B1) SF-1:

Nuclear receptor subfamily 0 group B member 1

DLST:

Dihydrolipoamide S-succinyltransferase

FH:

Fumarate hydratase

GATA3:

GATA binding protein 3

GCM2:

Glial cells missing transcription factor 2

GNA11:

G protein subunit alpha 11

H3F3A:

H3.3 histone A

HIF2A:

Hypoxia-inducible factor 1 subunit alpha

HRAS:

HRas proto-oncogene, GTPase

IDH:

Isocitrate dehydrogenase (NADP(+)) 1

IRP1:

Iron regulatory protein

KCNJ5:

Potassium inwardly rectifying channel subfamily J member 5

MAML3:

Mastermind-like transcriptional coactivator 3

MDH2:

Malate dehydrogenase 2

NF1:

Neurofibromin 1

NR5A1:

Nuclear receptor subfamily 5 group A member 1

P450scc/CYP11A1:

Cytochrome P450 family 11 subfamily A member 1

PHD1:

Prolyl hydroxylase 1

POLE1:

DNA polymerase epsilon, catalytic subunit

PTH:

Parathyroid hormone

RET:

Ret proto-oncogene

SAMD9:

Sterile alpha motif domain containing 9

SDHx:

Succinate dehydrogenase complex iron-sulfur subunit B

SEMA3E:

Semaphorin 3E

SGPL1:

Sphingosine-1-phosphate lyase 1

SLC25A11d:

Solute carrier family 25 member 13

SOX3:

SRY-Box transcription factor 3

TMEM127:

Transmembrane protein 127

VHL/EPAS:

Von Hippel–Lindau tumor suppressor

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Authors and Affiliations

  1. Department of Chemistry and Biochemistry, Université du Québec à Montréal (UQAM), Montreal, QC, Canada

    Afshan Masood, Abeer Malkawi & Mohamed Siaj

  2. Metabolomics Section, Department of Clinical Genomics, Center for Genome Medicine, King Faisal Specialist Hospital & Research Center (KFSHRC), Riyadh, Saudi Arabia

    Anas M. Abdel Rahman

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  1. Afshan Masood
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  2. Abeer Malkawi
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  3. Mohamed Siaj
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  4. Anas M. Abdel Rahman
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Correspondence to Mohamed Siaj or Anas M. Abdel Rahman .

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Editors and Affiliations

  1. Metabolomics Section, Department of Clinical Genomics, Center for Genome Medicine, King Faisal Specialist Hospital & Research Center (KFSHRC), Riyadh, Saudi Arabia

    Anas M. Abdel Rahman

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Masood, A., Malkawi, A., Siaj, M., Abdel Rahman, A.M. (2023). Metabolomics and Genetics of Rare Endocrine Disease: Adrenal, Parathyroid Glands, and Cystic Fibrosis. In: Abdel Rahman, A.M. (eds) Clinical Metabolomics Applications in Genetic Diseases. Springer, Singapore. https://doi.org/10.1007/978-981-99-5162-8_9

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  • DOI: https://doi.org/10.1007/978-981-99-5162-8_9

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