The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes
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DOI: 10.1002/mgg3.1292
Abstract: Mitochondrial diabetes (MD) is a rare monogenic form of diabetes and divided into type l and type 2. It is characterized by a strong familial clustering of diabetes with the presence of maternal transmission in… read more here.
Keywords: mitochondrial diabetes; deletion depletion; 3243a mutation;
Association study of apoptosis gene polymorphisms in mitochondrial diabetes: A potential role in the pathogenicity of MD.
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DOI: 10.1016/j.gene.2017.09.063
Abstract: Mitochondrial diabetes (MD) is a heterogeneous disorder characterized by a chronic hyperglycemia and is maternally transmitted. Syndromic MD is a subgroup of MD including diabetic microangiopathy and macroangiopathy, in addition to extrapancreatic disorder. MD is… read more here.
Keywords: association study; apoptosis; syndromic subgroup; mitochondrial diabetes ... See more keywords
“Switched” metabolic acidosis in mitochondrial diabetes mellitus
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DOI: 10.1111/jdi.12992
Abstract: A patient with mitochondrial diabetes mellitus developed diabetic ketoacidosis. During insulin treatment, although diabetic ketoacidosis improved, lactic acidosis unexpectedly worsened. This clinical course, named “switched metabolic acidosis,” could reflect the unique pathophysiology of the mitochondrial… read more here.
Keywords: acidosis; switched metabolic; acidosis mitochondrial; diabetes mellitus ... See more keywords
Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome.
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DOI: 10.1530/eje-20-0189
Abstract: Objective Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a very rare condition; it encompasses a diverse group of disorders including diabetes. Phenotypic variability can be attributed to heteroplasmy along with varying… read more here.
Keywords: melas syndrome; mutation load; load; mitochondrial diabetes ... See more keywords
The Role of Lactate Exercise Test and Fasting Plasma C-Peptide Levels in the Diagnosis of Mitochondrial Diabetes: Analysis of Clinical Characteristics of 12 Patients With Mitochondrial Diabetes in a Single Center With Long-Term Follow-Up
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.835570
Abstract: Objective The aim of this study was to analyze the clinical characteristics and the pattern of long-term changes of fasting plasma C-peptide in patients with mitochondrial diabetes (MD), and to provide guidance for the diagnosis… read more here.
Keywords: plasma peptide; mitochondrial diabetes; plasma; exercise ... See more keywords
Insulin Resistance in Mitochondrial Diabetes
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DOI: 10.3390/biom13010126
Abstract: Mitochondrial diabetes (MD) is generally classified as a genetic defect of β-cells. The main pathophysiology is insulin secretion failure in pancreatic β-cells due to impaired mitochondrial ATP production. However, several reports have mentioned the presence… read more here.
Keywords: pathophysiology; insulin resistance; mitochondrial diabetes; resistance mitochondrial ... See more keywords