Searches , social queries for MITOCHONDRIAL OPTIC-NEUROPATHIES
Search references for MITOCHONDRIAL OPTIC-NEUROPATHIES. Phrases containing MITOCHONDRIAL OPTIC-NEUROPATHIES
See searches and references containing MITOCHONDRIAL OPTIC-NEUROPATHIES!
Search references for MITOCHONDRIAL OPTIC-NEUROPATHIES. Phrases containing MITOCHONDRIAL OPTIC-NEUROPATHIES
See searches and references containing MITOCHONDRIAL OPTIC-NEUROPATHIES!MITOCHONDRIAL OPTIC-NEUROPATHIES
Group of visual disorders
Mitochondrial optic neuropathies are a heterogenous group of disorders that present with visual disturbances resultant from mitochondrial dysfunction
Mitochondrial optic neuropathies
Mitochondrial_optic_neuropathies
Medical condition
inherited optic neuropathies typically manifest asa symmetric bilateral central visual loss. Optic nerve damage in most inherited optic neuropathies is permanent
Optic_neuropathy
Mitochondrially inherited degeneration of retinal nerve cells
Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells
Leber's hereditary optic neuropathy
Leber's_hereditary_optic_neuropathy
Medical condition
impact mitochondrial oxidative phosphorylation. Thus, the toxic and nutritional optic neuropathies are actually acquired mitochondrial optic neuropathies. The
Toxic and nutritional optic neuropathy
Toxic_and_nutritional_optic_neuropathy
Medical condition
Carelli; Ross-Cisneros, FN; Sadun, AA (2004). "Mitochondrial dysfunction as a cause of optic neuropathies". Progress in Retinal and Eye Research. 23 (1):
Kjer's_optic_neuropathy
Mitochondrial disease
inherited diabetes and deafness), MERRF syndrome, and Leber's hereditary optic neuropathy. It was first characterized under this name in 1984. A feature of these
MELAS_syndrome
is ongoing. Inherited mitochondrial optic neuropathies, including Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA), result
Non-image-forming_vision
Organelle in eukaryotic cells responsible for respiration
include Kearns–Sayre syndrome, MELAS syndrome and Leber's hereditary optic neuropathy. In the vast majority of cases, these diseases are transmitted by a
Mitochondria
Disorders caused by mitochondrial dysfunction
combination can be due to mitochondrial disease, as may occur in Kearns–Sayre syndrome and Pearson syndrome Leber's hereditary optic neuropathy (LHON) LHON is an
Mitochondrial_disease
Enzyme of the respiratory chain encoded by the mitochondrial genome
Lott MT, Wallace DC (August 1992). "A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid
Cytochrome c oxidase subunit I
Cytochrome_c_oxidase_subunit_I
Mitochondrial disorder
features include dementia, optic atrophy, bilateral deafness, peripheral neuropathy, spasticity, or multiple lipomata. Mitochondrial disorders, including MERRFS
MERRF_syndrome
Enzyme of the respiratory chain encoded by the mitochondrial genome
isolated myopathy, severe encephalomyopathy, Leber hereditary optic neuropathy, mitochondrial complex IV deficiency, and recurrent myoglobinuria . The MT-CO3
Cytochrome c oxidase subunit III
Cytochrome_c_oxidase_subunit_III
Human mitochondrial DNA
specific to haplogroup J have been associated with Leber's hereditary optic neuropathy. Around 45,000 years before present, a mutation took place in the DNA
Haplogroup_J_(mtDNA)
Simplest carboxylic acid (HCOOH)
jelechem.2024.118913. ISSN 1572-6657. Sadun, A. A (2002). "Mitochondrial optic neuropathies". Journal of Neurology, Neurosurgery, and Psychiatry. 72 (4):
Formic_acid
Rare metabolic disorder
early childhood with dystonia, optic atrophy, and basal ganglia signal abnormalities, although an LHON-like optic neuropathy presentation has also been reported
MEPAN_syndrome
Mitochondrial gene coding for a protein involved in the respiratory chain
with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Leigh's syndrome (LS), Leber's hereditary optic neuropathy (LHON)
MT-ND1
Mitochondrial gene coding for a protein involved in the respiratory chain
symptoms of Leigh's syndrome and Leber's hereditary optic neuropathy (LHON). MT-ND5 is located in mitochondrial DNA from base pair 12,337 to 14,148. The MT-ND5
MT-ND5
American ophthalmologist (born 1950)
an epidemic of optic neuropathy in Cuba. This work led to further investigations into the role of mitochondria in optic neuropathies due to injury from
Alfredo_Sadun
Mitochondrial gene coding for a protein involved in the respiratory chain
with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Leigh's syndrome (LS), Leber's hereditary optic neuropathy (LHON)
MT-ND2
Health problem from genome abnormalities
of disorder is Leber's hereditary optic neuropathy. It is important to stress that the vast majority of mitochondrial diseases (particularly when symptoms
Genetic_disorder
Mitochondrial gene coding for a protein involved in the respiratory chain
Leigh's syndrome, Leber's hereditary optic neuropathy (LHON) and dystonia. The MT-ND6 gene is located in human mitochondrial DNA from base pair 14,149 to 14
MT-ND6
Mitochondrial gene coding for a protein involved in the respiratory chain
BMI in adults and Leber's Hereditary Optic Neuropathy (LHON). The MT-ND4L gene is located in human mitochondrial DNA from base pair 10,469 to 10,765.
MT-ND4L
Human disease
mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and
Wolfram_syndrome
Diverse group of genetic neuromuscular disorders disrupting mitochondrial function
difficulty keeping up with physical activity, dementia, ptosis, optic atrophy, peripheral neuropathy, sensorineural hearing loss, and stunted height. Additionally
Mitochondrial encephalomyopathy
Mitochondrial_encephalomyopathy
Protein-coding gene in the species Homo sapiens
prevent mitochondrial fusion. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting
Dynamin-like_120_kDa_protein
Mitochondrial protein-coding gene whose product is involved in the respiratory chain
with Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Leigh's syndrome (LS) and Leber's hereditary optic neuropathy (LHON)
MT-ND3
Chemical compound
there is only one approved treatment. Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited (mother to all offspring) degeneration of retinal
Idebenone
Mitochondrial gene coding for a protein involved in the respiratory chain
hereditary optic neuropathy (LHON), mesial temporal lobe epilepsy (MTLE) and cystic fibrosis. The MT-ND4 gene is located in human mitochondrial DNA from
MT-ND4
Insufficient level of copper in the body, leading to anaemia and nervous symptoms
of neurological problems including myelopathy, peripheral neuropathy, and optic neuropathy. Copper deficiency myelopathy in humans was discovered and
Copper_deficiency
clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation." Brain 118.2 (1995): 319-337
Mother's_curse
Protein-coding gene in humans
syndrome, a rare autosomal recessive mitochondrial metabolic disorder characterized by childhood-onset dystonia, optic atrophy, and basal ganglia signal
MECR
Protein-coding gene in the species Homo sapiens
motor and sensory neuropathy. Symptoms include early-onset optic atrophy, progressive visual loss, and peripheral sensorimotor neuropathy manifesting as
SLC25A46
Pharmaceutical compound
from patients with various mitochondrial diseases (including Leigh syndrome, MELAS syndrome, Leber's hereditary optic neuropathy, and Kearns–Sayre syndrome)
Mitochonic_acid_5
Medical condition
Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alpers' disease, is any of a group of autosomal recessive disorders that cause a significant drop
Mitochondrial DNA depletion syndrome
Mitochondrial_DNA_depletion_syndrome
Muscle disorders caused by mitochondrial dysfunction
Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. Adenosine triphosphate (ATP), the chemical used to provide energy
Mitochondrial_myopathy
Widespread human mitochondrial DNA grouping indicating common ancestry
S.; Derbeneva, Olga; et al. (2012). "Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans". PNAS. 109
Haplogroup_M_(mtDNA)
Class of peripheral neurons
neuropathy and Autosomal Dominant Optic Atrophy. The Leber's Neuropathy is caused by a mutation in the Mitochondrial DNA (the DNA located inside the chromosome)
Ganglion_cell
Protein-coding gene in humans
mutations is mitochondrial transport and indeed current models propose this defect as the major cause of CMT2A. Mutations in OPA1 also cause optic atrophy
MFN2
Protein-coding gene in the species Homo sapiens
dehydrogenase family member 9, mitochondrial is an enzyme that in humans is encoded by the ACAD9 gene. Mitochondrial Complex I Deficiency with varying
ACAD9
Hungarian neurologist and researcher
Valentino ML. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA–haplogroup background.The American Journal of
Rita_Horvath
Identity of organellar DNA sequences in a cell
J.; Nikoskelainen, Eeva K. (1988). "Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy". Science. 242 (4884): 1427–1430. Bibcode:1988Sci
Homoplasmy
Human mitochondrial DNA grouping indicating common ancestry
LG, Qian G, Wallace DC (May 2012). "Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans". Proc Natl
Haplogroup_A_(mtDNA)
Protein-coding gene in the species Homo sapiens
cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber's hereditary optic neuropathy, and some forms of Parkinson's disease. Mutations on the X chromosome
NADH dehydrogenase (ubiquinone), alpha 1
NADH_dehydrogenase_(ubiquinone),_alpha_1
Hemicrania Continua Hemifacial spasm Hemispatial neglect Hereditary motor neuropathies Hereditary spastic paraplegia Heredopathia atactica polyneuritiformis
List of neurological conditions and disorders
List_of_neurological_conditions_and_disorders
Protein complex involved in cellular respiration
known as NADH:ubiquinone oxidoreductase, Type I NADH dehydrogenase and mitochondrial complex I) is the first large protein complex of the respiratory chains
Respiratory_complex_I
Medical condition (poisoning)
coherence tomography angiography in patients with methanol-induced optic neuropathy. BMC ophthalmology, 23(1), 178. https://doi.org/10.1186/s12886-023-02937-x
Methanol_toxicity
Genetic mitochondrial disease
oculocranionsomatic neuromuscular disorder with ragged red fibers is a mitochondrial myopathy with a typical onset before 20 years of age. KSS is a more
Kearns–Sayre_syndrome
Protein-coding gene in the species Homo sapiens
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (NDUFS1) is an enzyme that in humans is encoded by the NDUFS1 gene. The encoded protein,
NDUFS1
Presence of abundant hair between the eyebrows
impairment, elliptocytosis, and nephrocalcinosis Mitochondrial complex 4 deficiency, nuclear type 20 Mitochondrial complex III deficiency nuclear type 7 Mucopolysaccharidosis
Unibrow
Vision loss due to damage to the macula of the eye
mutations in fibulin-5 and the incidence of the disease.[citation needed] Mitochondrial-related gene polymorphisms such as that in the MT-ND2 molecule, predicts
Macular_degeneration
Rare metabolic genetic disorder resulting in leukoencephalopathy
characterized by prominent cerebellar ataxia, mild spasticity, optic atrophy, and a sensorimotor neuropathy, without organomegaly or dysfunction of internal organs
Ribose-5-phosphate isomerase deficiency
Ribose-5-phosphate_isomerase_deficiency
Protein-coding gene in the species Homo sapiens
NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial (NDUFS4) also known as NADH-ubiquinone oxidoreductase 18 kDa subunit is an enzyme
NDUFS4
Human mitochondrial DNA grouping indicating common ancestry
Lvova, Maria; et al. (8 May 2012). "Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans". Proceedings
Haplogroup_Y
Group of genetic disorders affecting motor neurons controlling the lower limbs
These include: peripheral neuropathy, amyotrophy, ataxia, intellectual disability, ichthyosis, epilepsy, optic neuropathy, dementia, deafness, or problems
Hereditary_spastic_paraplegia
Mitochondrial protein-coding gene whose product is involved in ATP synthesis
cardiovascular disorders, including mitochondrial complex V deficiency, Leber's hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke-like
MT-ATP8
Mitochondrial protein-coding gene whose product is involved in ATP synthesis
cardiovascular disorders, including mitochondrial complex V deficiency, Leber's hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke-like
MT-ATP6
Protein-coding gene in the species Homo sapiens
cardiomyopathy, and optic atrophy. Clinically, these variants have been associated with Leigh syndrome and infantile-onset mitochondrial encephalopathy. Survival
FOXRED1
Human mitochondrial DNA (mtDNA) haplogroup
et al. (Jul 2011). "Mitochondrial Haplogroup Background May Influence Southeast Asian G11778A Leber Hereditary Optic Neuropathy". Invest Ophthalmol Vis
Haplogroup_D_(mtDNA)
Protein-coding gene in the species Homo sapiens
ATP synthase F1 subunit epsilon, mitochondrial is an enzyme that in humans is encoded by the ATP5F1E gene. The protein encoded by ATP5F1E is a subunit
ATP5F1E
Human mitochondrial DNA haplogroup
S.; Derbeneva, Olga; et al. (2012). "Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans". PNAS. 109
Haplogroup_Z
Enzyme of the respiratory chain encoded by a mitochondrial gene
second subunit of cytochrome c oxidase. It is also one of the three mitochondrial DNA (mtDNA) encoded subunits (MT-CO1, MT-CO2, MT-CO3) of respiratory
Cytochrome c oxidase subunit 2
Cytochrome_c_oxidase_subunit_2
Human mitochondrial DNA haplogroup
Guisheng; Wallace, Douglas C. (2012). "Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans". Proceedings
Haplogroup_C_(mtDNA)
Protein found in humans
NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial (NDUFS2) also known as NADH-ubiquinone oxidoreductase 49 kDa subunit is an enzyme
NDUFS2
Chemical compound
Protects against ischemic stroke, optic nerve injury, intracerebral hemorrhage, and chemotherapy-induced peripheral neuropathy. Chaubey, Kalyani; et al. (2025)
P7C3-A20
Human mitochondrial DNA haplogroup
Lvova, Maria; et al. (8 May 2012). "Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans". Proceedings
Haplogroup_G_(mtDNA)
Protein-coding gene in the species Homo sapiens
cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. Mutations have included the homozygous
NDUFAF3
Protein-coding gene in the species Homo sapiens
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial (NADH-ubiquinone oxidoreductase ESSS subunit) is an enzyme that in humans
NDUFB11
Medical condition
feature of mitochondrial disease, in which case the term CPEO may be given as the diagnosis. In other people suffering from mitochondrial disease, CPEO
Chronic progressive external ophthalmoplegia
Chronic_progressive_external_ophthalmoplegia
Protein-coding gene in the species Homo sapiens
cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. In a patient with missense mutations
NDUFAF1
American geneticist and physician scientist
and its relationship with breast cancer, the genetics of optic atrophy and other mitochondrial diseases. His laboratory developed a Drosophila model to
Taosheng_Huang
Medical condition
association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay
Behr_syndrome
Gradual retinal degeneration leading to progressive sight loss
appearance of the optic disk, and (3) the attenuation of blood vessels in size and arterial/venous ratio as they enter and exit the optic disk of the retina
Retinitis_pigmentosa
Protein-coding gene in humans
encephalopathy, cardiomyopathy, myopathy, liver disease, Leber hereditary optic neuropathy, and some forms of Parkinson disease. Mutations in NDUFAF5 has also
NDUFAF5
Italian biologist
and mitochondrial pathophysiology, as well as mitochondrial dynamics and interorganellar contact sites. His lab identified the role of Opa1, optic atrophy
Luca_Scorrano
Protein-coding gene in the species Homo sapiens
interactions with the mitochondrial GTPase optic atrophy 1 (OPA1) and the Bcl-2 family-related protein HAX1. OPA1 mainly regulates mitochondrial fusion in the
PARL
Protein-coding gene in the species Homo sapiens
cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. High-throughput DNA sequencing
NUBPL
Type of gene expression
the MT-ND4 gene in the nucleus as therapies for Leber's hereditary optic neuropathy. In 2020, Gensight released Phase III clinical trial results, which
Allotopic_expression
Protein-coding gene in the species Homo sapiens
oxidoreductase) of the mitochondrial respiratory chain. Defects in complex I are a common cause of mitochondrial dysfunction. Mitochondrial complex I deficiency
NDUFV1
Human mitochondrial DNA haplogroup
Yutthana Joyjinda et al., "Mitochondrial Haplogroup Background May Influence Southeast Asian G11778A Leber Hereditary Optic Neuropathy", Investigative Ophthalmology
Haplogroup_F_(mtDNA)
Medical condition
corpus callosum, diminished muscle tone, intellectual disability, nystagmus, optic nerve atrophy, slow eye movements, drooping upper eyelid, seizures. There
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Leukoencephalopathy_with_brainstem_and_spinal_cord_involvement_and_lactate_elevation
Chemical compound
episodes) spectrum disorders, and LHON (Leber's Hereditary Optic Neuropathy). Signs of these mitochondrial diseases include fatigue, loss of muscle strength and
Sonlicromanol
Protein-coding gene in the species Homo sapiens
NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial, also knowns as NADH-ubiquinone oxidoreductase 20 kDa subunit, Complex I-20kD (CI-20kD)
NDUFS7
Protein-coding gene in the species Homo sapiens
cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. In NDUFS6 mutations the presentation
NDUFS6
Protein-coding gene in humans
complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane
SDHA
Protein-coding gene in the species Homo sapiens
NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial (NDUFV2) is an enzyme that in humans is encoded by the NDUFV2 gene. The encoded protein
NDUFV2
Protein-coding gene in the species Homo sapiens
NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial is an enzyme that in humans is encoded by the NDUFS3 gene on chromosome 11. This
NDUFS3
050 – amyloid neuropathies MeSH C10.668.829.050.050 – amyloid neuropathies, familial MeSH C10.668.829.100 – brachial plexus neuropathies MeSH C10.668.829
List_of_MeSH_codes_(C10)
Human mitochondrial DNA haplogroup
S.; Derbeneva, Olga; et al. (2012). "Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans". PNAS. 109
Haplogroup_B_(mtDNA)
Mitochondrial protein-coding gene
epilepsy. Other phenotypes include mitochondrial encephalomyopathy, mitochondrial myopathy, Leber hereditary optic neuropathy, muscle weakness, myoglobinuria
MT-CYB
Protein-coding gene in the species Homo sapiens
cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. Clinically, NDUFAF2 mutations
NDUFAF2
Protein-coding gene in the species Homo sapiens
cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. Pathogenic mutations have been
NDUFAF4
dysfunction; 602522; BSND Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; 607459; POLG Septo-optic dysplasia; 182230; HESX1 SERKAL syndrome;
List_of_OMIM_disorder_codes
Protein
epilepsy. Other phenotypes include mitochondrial encephalomyopathy, mitochondrial myopathy, Leber hereditary optic neuropathy, muscle weakness, myoglobinuria
UQCRB
Form of protein-mediated transfection
inherited mitochondrial diseases, such as Leber's hereditary optic neuropathy. Studies have shown that protofection can lead to improved mitochondrial function
Protofection
Protein and coding gene in humans
cardiomyopathy, myopathy, liver disease, Leigh's syndrome, Leber's hereditary optic neuropathy, and some forms of Parkinson's disease. There is no clear genotype-phenotype
NDUFA11
Antibiotic medication
O'hearn TM, Lai MM, Sadun AA (January 2007). "Linezolid-induced optic neuropathy: a mitochondrial disorder?". The British Journal of Ophthalmology. 91 (1):
Linezolid
Syndromes
syndrome Mirror syndrome Mismatch repair cancer syndrome Mitochondrial DNA depletion syndrome Mitochondrial neurogastrointestinal encephalopathy syndrome Mitral
List_of_syndromes
Scientific discipline
of neurological problems including, myelopathy, peripheral neuropathy, and optic neuropathy. Affected individuals typically present difficulty walking
Nutritional_neuroscience
Human chromosome
Hereditary sensory neuropathy, type ib HTD2: encoding protein Hydroxyacyl-thioester dehydratase type 2 LARS2: leucyl-tRNA synthetase, mitochondrial LIMD1: LIM
Chromosome_3
Human mitochondrial DNA haplogroup
et al. (2012). "Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy". PLOS ONE. 7 (8) e42242
Haplogroup_I_(mtDNA)
travel, tourism, insurance
MITOCHONDRIAL OPTIC-NEUROPATHIES
MITOCHONDRIAL OPTIC-NEUROPATHIES
MITOCHONDRIAL OPTIC-NEUROPATHIES
MITOCHONDRIAL OPTIC-NEUROPATHIES
MITOCHONDRIAL OPTIC-NEUROPATHIES
MITOCHONDRIAL OPTIC-NEUROPATHIES
MITOCHONDRIAL OPTIC-NEUROPATHIES
MITOCHONDRIAL OPTIC-NEUROPATHIES
MITOCHONDRIAL OPTIC-NEUROPATHIES
travel, tourism, insurance