Related Experiment Video
Updated: Mar 29, 2026
11:47
Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function
Published on: January 22, 2017
11.3K
Mitochondrial pathology in progressive cerebellar ataxia
David Bargiela1, Priya Shanmugarajah2, Christine Lo2
1Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Cerebellum & Ataxias
|December 8, 2015
Summary
Muscle biopsies are valuable for diagnosing mitochondrial disease in patients with progressive ataxia. Approximately 23% of patients with unexplained ataxia showed signs of mitochondrial dysfunction, aiding diagnosis.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Mitochondrial disease often presents as multi-organ disorders with neurological symptoms.
- Cerebellar ataxia can be a symptom of mitochondrial disease, but blood DNA testing is insufficient for exclusion.
- Muscle biopsy is a crucial diagnostic tool for suspected mitochondrial disease in ataxia patients.
Purpose of the Study:
- To establish patient selection criteria for muscle biopsy in suspected mitochondrial disease.
- To determine the frequency of mitochondrial mutations causing progressive ataxia.
Main Methods:
- Retrospective review of 126 patients with unexplained progressive ataxia across two centers (Sheffield and Newcastle) from 2004-2014.
- Patients underwent muscle biopsy to investigate suspected mitochondrial disease.
Main Results:
- 23% (29/126) of patients showed histologically suspected or genetically confirmed mitochondrial disease.
- Of the 126 patients, 24 had pure ataxia and 102 had ataxia with additional symptoms.
Conclusions:
- Muscle biopsy is a helpful diagnostic method for identifying mitochondrial disease in patients with progressive ataxia.
- A significant proportion of patients with progressive ataxia have underlying mitochondrial dysfunction, confirmed by biopsy.
Related Concept Videos
02:59Animal Mitochondrial Genetics
10.0K
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...
10.0K
01:48ATP Synthase: Mechanism
18.8K
In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased...
18.8K
01:39Mitochondrial Precursor Proteins
3.9K
Mitochondrial precursors are partially unfolded or loosely folded polypeptide chains. Newly synthesized precursors are inhibited from spontaneously folding into their native conformation by the cytosolic chaperones, heat shock proteins 70 (Hsp70), and mitochondrial import stimulation factors (MSFs). Precursors bound to MSFs are guided to the TOM70-TOM37 receptors, while precursors bound to Hsp70 chaperones are targetted to TOM20-TOM22 receptor complexes.
Most of the mitochondrial...
Most of the mitochondrial...
3.9K
01:39Mitochondrial Protein Sorting
6.0K
Mitochondria are double-membrane organelles of the eukaryotes involved in cellular metabolism, signaling, ATP synthesis, and programmed cell death. Each of these processes requires specific proteins and enzymes that must be correctly sorted to the right mitochondrial subcompartment for the proper functioning of the organelle.
Most of these mitochondrial proteins are encoded by the nucleus and imported to the mitochondria as unfolded or loosely folded precursors. Mitochondrial precursors...
Most of these mitochondrial proteins are encoded by the nucleus and imported to the mitochondria as unfolded or loosely folded precursors. Mitochondrial precursors...
6.0K
01:15Parkinson's Disease: Overview
2.4K
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
2.4K
01:45Mitochondrial Membranes
17.8K
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,...
17.8K