Mitochondrial disease is characterized by insufficient cellular energy levels, leading to impaired functionality in high-energy tissues such as muscle, brain, and heart tissue. The presence of an abnormally large number of defective mitochondria in the body's cells is a common feature of most mitochondrial diseases. These disorders often affect multiple organ systems within the body. The majority of mitochondrial diseases primarily impact muscle function (myopathy). As a contract research organization (CRO) specializing in preclinical research, Protheragen is dedicated to providing comprehensive support and services for customers engaged in the study and treatment of muscle-specific mitochondrial diseases.
The following are the types of mitochondrial diseases linked to muscle involvement.
| Disease |
Inheritance |
Gene |
Molecular defects |
Clinical manifestations |
Laboratory tests |
| CPEO |
Autosomal dominant, autosomal recessive, sporadic (common 4,977 base pair deletion) or maternal inheritance (mtDNA) |
POLG1,
POLG2,
ANTI,
C10ORF2,
OPAI, TK2 |
1/3 of mtDNA single large-scale deletion (4.9-kb) |
- Bilateral ptosis
- Drooping of eyelids
- Dysphagia
- Myopathy |
- Detection of single or multiple mtDNA deletions and major pathogenic variants of nuclear DNA |
| MELAS |
Maternal inheritance (mitochondrial DNA) |
MT-TL1,
MT-ND5 |
80% of cases have m.3243A>G mutation in MT-TL1 |
- Stroke-like episodes Myopathy
- Accompanied by seizures, cognitive impairment, or both encephalopathy |
- Lactic acidosis in blood and cerebrospinal fluid
- Muscle biopsy shows ragged red fibers
- Stroke-like lesions in MRI |
| Kearns-Sayre Syndrome |
Maternal inheritance (mtDNA), sporadic |
Mitochondrial DNA (mtDNA) |
Mitochondrial DNA single and large deletions |
- Onset 20 years ago
- Pigmentary retinopathy
- CPEO
- Myopathy
- Heart block |
- Cerebrospinal fluid protein > 100 mg/dL
- Blood and cerebrospinal fluid lactate elevation
- Muscle biopsy RRF
- Heart block |
| MERRF |
Maternal inheritance, sporadic |
MT-TK |
m.8344A>G |
- Muscle spasm
- Generalized epilepsy
- Ataxia
- Myopathy |
- Cerebrospinal fluid protein greater than 100 mg/d
- Elevated lactate in blood, cerebrospinal fluid, or both |
| CoQ10 Deficiency Syndrome |
Autosomal recessive inheritance |
COQ2,
COQ4,
COQ6,
COQ7,
COQ8A,
COQ8B,
COQ9,
PDSS1,
PDSS2 |
CoQ10 biosynthesis defect |
- Infantile onset mitochondrial encephalomyopathy
- Steroid-resistant nephrotic syndrome
- Multisystem atrophy-like neurodegenerative phenotype |
- Lactic acidosis in blood and cerebrospinal fluid
- Decreased CoQ10 levels in muscle biopsy |
| TK2 Deficiency |
Autosomal recessive inheritance |
TK2 |
Causes defects in the maintenance of mitochondrial DNA (mtDNA) |
- Infantile myopathy
- Juvenile/childhood proximal muscle weakness
- Late-onset myopathy with facial and limb weakness |
- Multiple respiratory chain complex deficiencies
- Mitochondrial DNA contains the least
- Elevated creatine kinase (CK) |
| Mitochondrial Myopathy |
Autosomal recessive inheritance |
Various genes associated with mitochondrial function |
Causes defects in mitochondrial function |
- Progressive muscle weakness and fatigue
- Exercise intolerance
- Respiratory difficulties
- Cardiac abnormalities in some cases |
- Muscle biopsy showing mitochondrial abnormalities
- Elevated C |
Our Services
Protheragen boasts a team of seasoned professionals, encompassing biochemists, pharmacologists, molecular biologists, and clinical researchers. They possess profound expertise and extensive research acumen in the realm of muscle-specific mitochondrial diseases while offering a comprehensive range of services tailored specifically to address such conditions.
Preclinical Research Service
By synthesizing novel compounds and conducting in vitro cell and animal model studies, our dedicated efforts are focused on the exploration of innovative treatments and elucidation of disease mechanisms.
Drug screening and Evaluation
The services we offer encompass high-throughput drug screening and evaluation, enabling our clients to swiftly identify and assess potential therapeutic candidates.
Mitochondrial Function Analysis
The application of advanced metabolic analysis techniques enables us to evaluate the functionality of mitochondria and furnish crucial data support for subsequent investigations.
Our Advantages
If you are interested in availing our services or have any inquiries, please do not hesitate to contact us. We eagerly anticipate collaborating with you to make significant contributions towards the research and therapy development of muscle-specific mitochondrial diseases.
