Related Experiment Video

Updated: Jun 27, 2025

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry
06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry

Published on: November 23, 2011

36.8K

Mitochondrial Diabetes Mellitus With Mitochondrial DNA 3316G>A Mutation: A Unique Autopsy Case Presenting With

Chikara Mashiba1, Akihiro Shioya2, Motona Kumagai3

  • 1Department of Pathology, Kanazawa Medical University Hospital, Uchinada, JPN.

Cureus
|May 2, 2024
PubMed

Insights

A patient with mitochondrial diabetes mellitus (MDM) developed sepsis from Gram-negative bacteria, leading to liver dysfunction. Autopsy revealed bile thrombi, suggesting sepsis-associated cholestasis as a potential cause of liver issues in MDM.

Area of Science:

  • Medicine
  • Genetics
  • Pathology

Background:

  • Mitochondrial diabetes mellitus (MDM) is a rare form of diabetes caused by mitochondrial DNA mutations.
  • The case involves a 70-year-old female with a known G>A point mutation at mitochondrial DNA 3316.

Observation:

  • The patient presented with urinary tract infection, diabetic foot gangrene, and Gram-negative *Bacteroides fragilis* bacteremia.
  • She developed severe jaundice with elevated direct bilirubin and died within two months.
  • Autopsy revealed hemorrhagic infarction in the lungs and cholestatic liver without gross cholangiectasis.

Findings:

  • Microscopic examination of the liver showed bile thrombi in biliary canaliculi, characteristic of cholestasis.
  • No signs of severe shock liver were present.
  • The condition was diagnosed as sepsis-associated cholestasis, linked to elevated endotoxins and inflammatory cytokines from Gram-negative bacteria.

Implications:

  • This case highlights a unique presentation of liver pathology in MDM.
  • The findings suggest sepsis-associated cholestasis as a potential mechanism for liver dysfunction in MDM.
  • Further research into these liver features may offer new insights into the enigmatic etiology of MDM.
Keywords:
conjugated hyperbilirubinemiagram-negative bacteremiamitochondrial diabetes mellitus (mdm)mitochondrial dna 3316g>a mutationsepsis-associated cholestasis

More Related Videos

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model06:05

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

Published on: March 9, 2022

3.8K
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

1.5K

Related Concept Videos

Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
7.6K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
157
Mitochondrial Membranes01:45

Mitochondrial Membranes

A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...
10.1K
Chronic Pancreatitis I: Introduction01:24

Chronic Pancreatitis I: Introduction

The pancreas, an elongated and flat gland situated behind the stomach, serves a vital function in digesting food and managing blood sugar levels.
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
87