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 …
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 …
processes as energy transduction, REDOX signaling, the biosynthesis of hormones and …
Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
established subgroups of mitochondrial encephalomyopathy. m. 3243A> G a common point …