Related Experiment Video
Updated: Jul 4, 2026
08:48
Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models
Published on: June 30, 2023
Mitochondrial diseases mimicking neurotransmitter defects
Angels Garcia-Cazorla1, Sofia Duarte, Mercedes Serrano
1Neurology Department, Hospital Sant Joan de Deu, Passeig Sant Joan de Deu, 2, 08950 Esplugues, Barcelona, Spain. agarcia@hsjdbcn.org
Mitochondrion
|June 19, 2008
Summary
Mitochondrial disorders can mimic primary neurotransmitter defects in infants. Early diagnosis is crucial as these conditions present with severe neurological symptoms and may require specific management beyond neurotransmitter treatments.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Mitochondrial disorders exhibit significant clinical heterogeneity.
- Differentiating them from primary neurotransmitter defects can be challenging in early-onset cases.
Observation:
- Five infants presented with symptoms resembling primary neurotransmitter defects, including hypokinetic-rigid syndrome, abnormal movements, hypotonia, and psychomotor delay.
- Cerebrospinal fluid analysis revealed low biogenic amine levels in some patients.
- Treatment with L-dopa showed limited efficacy.
Findings:
- Patients were ultimately diagnosed with mitochondrial disorders based on hyperlactacidemia, respiratory chain defects, and multisystemic involvement.
- The study highlights secondary neurotransmitter disturbances as a feature of mitochondrial diseases.
Implications:
- Paediatric mitochondrial disorders should be considered in the differential diagnosis of infantile hypokinetic-rigid syndrome.
- This underscores the importance of comprehensive biochemical and genetic testing for early and accurate diagnosis.
More Related Videos
Related Concept Videos
01:29Drugs Affecting Neurotransmitter Synthesis
Drugs affecting neurotransmitter synthesis can impact the adrenergic neuron and the synthesis of neurotransmitters. For example, α-methyltyrosine and carbidopa target specific enzymes involved in catecholamine synthesis. α-methyltyrosine inhibits the enzyme tyrosine hydroxylase, which converts tyrosine into dopamine. By blocking this enzyme, α-methyltyrosine reduces dopamine production and other catecholamines. Carbidopa, on the other hand, inhibits the enzyme dopa decarboxylase, which converts...
01:48ATP Synthase: Mechanism
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 ATP...
01:24Parkinson Disease ll: Pathophysiology
Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
01:29Excitatory and Inhibitory Effects of Neurotransmitters
When an action potential reaches the presynaptic axon terminal, it releases neurotransmitters from the neuron into the synaptic cleft at a chemical synapse. The released neurotransmitter can be excitatory or inhibitory. The critical criteria commonly used to determine whether a molecule is a neurotransmitter at a chemical synapse are the molecule's presence in the presynaptic neuron. Second, its release is in response to strong presynaptic depolarization. And lastly, the presence of specific...
01:15Parkinson's Disease: Overview
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 to...
01:28Disorders of the Nervous Tissue
Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...