Mitochondrial disease and endocrine dysfunction

J Chow, J Rahman, JC Achermann… - Nature Reviews …, 2017 - nature.com
Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis
occurs in these organelles and they provide energy in the form of ATP for hormone …

Mitochondrial functions and rare diseases

L Dard, W Blanchard, C Hubert, D Lacombe… - Molecular Aspects of …, 2020 - Elsevier
Mitochondria are dynamic cellular organelles responsible for a large variety of biochemical
processes as energy transduction, REDOX signaling, the biosynthesis of hormones and …

Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases

H Nisar, B Wajid, S Shahid, F Anwar… - Experimental …, 2021 - journals.sagepub.com
Rare diseases affect nearly 300 million people globally with most patients aged five or less.
Traditional diagnostic approaches have provided much of the diagnosis; however, there are …

Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study

B Siri, A D'Alessandro, A Maiorana… - European Journal of …, 2023 - academic.oup.com
Abstract Objective Single Large Scale Mitochondrial DNA Deletions (SLSMDs), Pearson
Syndrome (PS) and Kearns-Sayre Syndrome (KSS), are systemic diseases with multiple …

Electrolyte disorders in mitochondrial cytopathies: a systematic review

DHHM Viering, L Vermeltfoort… - Journal of the …, 2023 - journals.lww.com
Background Electrolyte reabsorption in the kidney has a high energy demand. Proximal and
distal tubular epithelial cells have a high mitochondrial density for energy release. Recently …

Adrenal dysfunction in mitochondrial diseases

M Corkery-Hayward, LA Metherell - International Journal of Molecular …, 2023 - mdpi.com
Cortisol is central to several homeostatic mechanisms including the stress and immune
response. Adrenal insufficiency and impaired cortisol production leads to severe, potentially …

Hypoglycemia in mitochondrial disorders

M Ashfaq, AR Moats, H Northrup, CN Singletary… - Mitochondrion, 2021 - Elsevier
Diabetes and hyperglycemia are common features of mitochondrial disorders. This study
investigates the frequency of non-iatrogenic hypoglycemia in individuals with these …

Adrenal insufficiency in mitochondrial disease: a rare case of GFER-related mitochondrial encephalomyopathy and review of the literature

L Calderwood, IA Holm, LA Teot… - Journal of Child …, 2016 - journals.sagepub.com
GFER-related mitochondrial encephalomyopathy has been previously described only in 3
siblings of a consanguineous Moroccan family. Their phenotype included congenital …

Headache in mitochondrial disorders

J Finsterer, S Zarrouk-Mahjoub - Clinical neurology and neurosurgery, 2018 - Elsevier
Headache is a prominent feature in mitochondrial disorders (MIDs) but no comprehensive
overview is currently available. This review aims at summarising and discussing findings …

Adrenal insufficiency in a child with MELAS syndrome

B Afroze, N Amjad, SH Ibrahim, KN Humayun… - Brain and …, 2014 - Elsevier
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) are
established subgroups of mitochondrial encephalomyopathy. m. 3243A> G a common point …