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MITOCHONDRIAL DISORDERS

Mitochondrial disorders
  Biochemical classification
  Clinical syndromes
  Evaluation
    Clinical Signs
    Laboratory
  General mechanisms
    Mutation types
      Mitochondrial
      Nuclear encoded proteins
    Functional defects
    Secondary effects
      mtDNA depletion
      Multiple mtDNA deletions
  Pathology
    Histology
      Differential diagnosis
    Ultrastructure
Biochemical Pathways
  Fatty acid oxidation
  Oxidative phosphorylation

Mitochondria
  General features
  Mitochondrial DNA (mtDNA)
    General Features
    Mutations
  Nuclear encoded proteins
    General Features
    Mutations
TCA cycle Beta-Oxidation Fatty acyl-CoA & Carnitine transport ATP ANT Glycolysis General mitochondrial functions Acetyl-CoA Pyruvate via PDHC to Acetyl-CoA Oxidative Phosphorylation


Mitochondria: General 33

Origin of mitochondria Structural features of mitochondria: 4 compartments Mitochondrial DNA (mtDNA) Mitochondrial proteins 133

General
Intermembrane space (IMS)
Matrix
Membrane
  Inner
  Outer
Submitochondrial
Other
Mitochondrial Biogenesis: Skeletal muscle Mitochondria: Axon transport

Functions of mitochondria

Mitochondrial DNA (mtDNA): General features

Differences from Nuclear DNA
Inheritance
mtDNA variation
Mutations & Disorders
Pathogenic mechanisms
Structure
Transcription & translation

Mitochondrial disorders: General pathogenic mechanisms 7


Mitochondrial Disorders: mtDNA-related mutations

General
Point mutations
  mtRNA
Deletions & Duplications
Quantitiative changes
Specific disorders
2° to Nuclear mutations

External links: Mitochondrial DNA mutations

Nuclear encoded mitochondrial proteins


General clinical features of mitochondrial disorders

Laboratory evaluation of mitochondrial disorders



MITOCHONDRIAL DISORDERS: CLINICAL SYNDROMES
Adult onset
Alexander disease: GFAP; NDUFV1
Alpers
ALS-FTD: CHCHD10
Alzheimer/Parkinsonism
Amino Acid disorders: Nuclear mutations
Anemia
Ataxias
Barth: Tafazzins; Xp28
Blindness
  Gyrate atrophy
  Optic atrophy
    LHON
    Wolfram: WFS1; WFS2
  Visual loss: SFXN4
Cardiomyopathy
Carnitine disorders
Cartilage-Hair hypoplasia: RMRP; 9p21
CNS
  Infantile & Childhood onset
  Syndromes
Congenital MD: CHKB; 2q13
Cramps
Deafness
  Maternal (mtDNA): Point mutations
    Amino-glycoside induced: 12s rRNA
    Syndromic (HAM; MELAS; MERRF): tRNA
    Non-syndromic: 12s rRNA
  Nuclear mutations
    DIDMOAD: WFS1; 4p16
    Deafness-Dystonia: DDP protein; Xq22
Diabetes
Dystonia
Encephalopathies
Fatigue & Exercise intolerance
Friedreich ataxia: Frataxin; 9q13
Functional defects
Gastrointestinal
HAM: mtDNA tRNA Ser
Hepatic
Huntington's chorea
Hypoglycemia
Infantile CNS: mtDNA & Nuclear mutations
Inflammatory myopathies
  IM-VAMP
  Mitochondrial antibodies
Kearns-Sayre: Single mtDNA deletion
Leber's optic (LHON): mtDNA, MTND
Leigh's syndrome: mtDNA & Nuclear muts
Leukodystrophy
Lipomatosis: mtRNA Lys & Nuclear
Longevity
Maple syrup urine disease
MEGDEL: SERAC1; 6q25
MELAS: mtRNA Leu + other
Menkes: ATPase 7a; Xq12
MERRF: mtRNA Lys & Ser
MILS
MLASA
  PUS1; 12q24
  YARS2; 12p11
MNGIE: Thymidine phosphorylase; 22q13
Myalgias
Myoglobinuria
Myopathy syndromes
  Infantile myopathies
    Fatal: mtDNA depletion
    "Later-onset": mtDNA depletion
  Inflammatory myopathy
    Inclusion body myositis: Mpl mtDNA delete
    mtDNA depletion: "Later-onset"
    PM + COX- muscle fibers: Mpl mtDNA delete
  LGMD 1H
NARP/MILS: mtATP6
Neoplasms
Neuropathy
  Motor ± Episodic weakness: mtATP6 or 8
Occipital horn syndrome: ATPase 7a; Xq12
Ophthalmoplegia, External (PEO)
  Dominant: Multiple mtDNA deletions
  Maternal: mtDNA point mutations
  Recessive: mtDNA deplete; Mpl mtDNA del  
  Sporadic: Single mtDNA deletion
  ? Immune (HyperThyroid)
Pancreas
Paraganglioma
Parkinson's
Pearson's: mtDNA deletion
Perrault
Rhabdomyolysis: mtDNA
SANDO
Selenium deficiency
Skeletal & Hair
Spastic paraparesis
Spinal muscular atrophy
  SCO2: 22q13
  TK2: 16q22
Stuve-Wiedemann syndrome: 1p34
Sudden infant death: MTTL1; MTND1; HADHB
Systemic disorders
Toxic
  Arsenic trioxide
  AZT (Zidovudine)
  Copper
  Germanium
  Trichloroethylene
  Valproate: Precipitates
    Liver failure in Alpers
    Seizures in MELAS
Wilson's disease: ATPase 7B; 13q14
Zellweger
  PEX12
  PEX16
Classifications of Mitochondrial Disorders
  Biochemical
  Clinical
  Genetic: mtDNA; Nuclear


NARP

(Neuropathy; Ataxia; Retinitis Pigmentosa)
  ATP synthase 6 (MTATP6) (Complex V); Mitochondrial

MELAS

(Mitochondrial Encephalomyopathy; Lactic Acidosis; Stroke)

MERRF 66

(Myoclonic Epilepsy; Ragged Red Fibers)


MNGIE 10

(Myopathy and external ophthalmoplegia; Neuropathy; Gastro-Intestinal; Encephalopathy)
  Thymidine phosphorylase (TP; TYMP; Endothelial cell growth factor 1 (ECGF1)) ; Chromosome 22q13.33; Recessive

Clinical
Genetics
Laboratory
TP protein
Variants
Also see
  MNGIE (MTDPS4B): Recessive POLG mutations
  PEO + Myopathy: MGME1



LHON 30

(Leber's; Hereditary; Optic; Neuropathy)

Kearns-Sayre Syndrome


PEO + (Progressive External Ophthalmoplegia)

Dominant
  Mitochondrial DNA Δ
    Multiple mtDNA deletions
  Nuclear DNA mutations
    POLG (PEOA1): 15q25
    ANT1 (PEOA2): 4q35
    Twinkle (PEOA3): 10q23
    POLG2 (PEOA4): 17q
    RRM2B (PEOA5): 8q23
    DNA2 (PEOA6): 10q21
    OPA1: 3q28
    Hypogonadism
    SCA28: AFG3L2; 18p11
Recessive
  Mitochondrial DNA Δ
      mtDNA depletion, or
      Multiple mtDNA deletions
  Nuclear DNA mutations
    Leigh, PEO, OA: c12orf65; 12q24
    MNGIE: TYMP; 22q13
    POLG: 15q25
    DGUOK: 2p13
    PEO + Myopathy: MGME1; 20p11
    PEO + Cardiomyopathy
    PEO + Myopathy & Parkinsonism
    Sensory neuropathy
Maternal
  Mitochondrial DNA Δ
    mtDNA point mutations
    May be sporadic
  mtRNALeu(UUR)
    MELAS
    PEO
  mtRNALeu(CUN)
  mtRNAAsn
  mtRNAGln: PEO-plus
  mtRNAAla: PEO-plus
  mtRNATyr: PEO-plus
  mtRNALys: PEO-plus
  mtRNAIle
  mtRNAPro
Sporadic
  Mitochondrial DNA changes
    Single mtDNA deletion, or
    Multiple mtDNA deletions
  Kearns-Sayre: Large mtDNA deletion
  PEO + Proximal myopathy
  Sensory ataxic neuropathy
  ? Immune (HyperThyroid)

Also see
  Congenital ophthalmoplegia


Ophthalmoplegia: General Features
Sporadic PEO
Maternal PEO


PEO: Autosomal Dominant

Autosomal Dominant PEO: Clinical features

Ophthalmoplegia

Triple furrowed tongue
Twinkle: 10q23
ANT1: 4q35
OPA1: 3q28
POLG2: 17q
RRM2B: 8q23
Hypogonadism
  POLG: 15q25
  Variants
    SANDO
    MIRAS
    MSCAE
    Alpers
    Parkinsons



PEO: Autosomal Recessive

Leigh, Optic atrophy & Ophthalmoplegia: c12orf65; 12q24
PEO + Myopathy & Parkinsonism
PEO + Myopathy & Respiratory failure: MGME1; 20p11.23
POLG1: 15q26
  HSN + Ophthalmoplegia (SANDO)
  PEO
  PEO + Cardiomyopathy


Myopathy, Myoglobinuria & Fatigue: Mitochondrial Disorders

Autosomal Dominant
Autosomal Recessive
Maternal
Sporadic

Myoglobinuria


Mitochondrial disorders: Sporadic Myopathy & Fatigue syndromes

Specific sporadic mitochondrial myopathy syndromes

Mitochondrial myopathy: Maternal; mtDNA Point Mutations

Cytochrome c Oxidase: Subunit 2
Mitochondrial tRNA mutations

Sporadic myopathies

Mitochondrial Myopathy: Autosomal Recessive disorders


mtDNA Depletion Syndromes Other recessive mitochondrial syndromes

Mitochondrial Myopathy: Autosomal Dominant



Systemic Mitochondrial Syndromes

Adult onset
Anemia
Ataxia
Cardiac
Deafness
Diabetes
Infantile encephalopathies
Multiple symmetric lipomatosis
Optic atrophy



Infantile encephalopathies: Mitochondrial disorders


Cardiomyopathy: Mitochondrial disorders

Mitochondrial DNA mutations
  mtRNA
  Other
Nuclear DNA mutations
  Infant onset
  Other
Selenium deficiency




Deafness: Mitochondrial disorders

Autosomal Recessive inheritance, Syndromic
  Wolfram (DIDMOAD): WFS1; WFS2
  Deafness-Dystonia syndrome
Maternal (mitochondrial) inheritance
  Non-syndromic
  Syndromic
Sporadic syndromic




Ataxia: Mitochondrial disorders


Diabetes & Pancreas: Mitochondrial disorders


Hypoglycemia: Mitochondrial disorders

Anemia & Hematologic

Myopathy with lactic acidosis & sideroblastic anemia 1 (MLASA1)
  Pseudouridine synthase 1 (PUS1) ; Chromosome 12q24.33; Recessive


Myopathy with lactic acidosis & sideroblastic anemia 2 (MLASA2) 112
  Tyrosyl-tRNA Synthetase (YARS2) ; Chromosome 12p11.21; Recessive


Exocrine pancreatic insufficiency, Dyserythropoietic anemia & Calvarial hyperostosis
  Cytochrome c Oxidase, Subunit IV, Isoform 2 (COX4I2) ; Chromosome 20q11.21; Recessive



Acute Infantile Liver Failure 104
  tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) ; Chromosome 22q13.31; Recessive



Multiple symmetric lipomatosis



Optic neuropathy: Mitochondrial disorders

LHON
OPA
  Mitochondrial
    1: OPA1; 3q28
    3: OPA3; 19q13
    Non-syndromic: TMEM126A; 11q14
  Other OPA: ? Etiology
    2: Xp11
    4: 18q12
    5: 22q12
    6: 8q21


Optic atrophy: ? Etiology


Leigh's Syndrome

Clinical features
Lab features
Types



Quantitative errors in mtDNA (mtDNA depletion (MTDPS))

Qualitative errors in mtDNA (multiple mtDNA deletions)

Mitochondrial disorders: Drugs & Toxins

Arsenic trioxide: Myopathy
Copper: CNS
Germanium: Myopathy
Ixabepilone: Neuropathy
Nucleosides
  AZT: Myopathy
  Clevudine: Myopathy
  General
  Neuropathy
  Telbivudine: Neuropathy; Myopathy
Trichloroethylene (TCE): Neuropathy
Valproate: Myopathy; CNS

 
AZT


Inclusion Body Myositis

Paragangliomas: Non-chromaffin, Hereditary

PGL1: SDHD; 11q23
PGL2: SDHAF2; 11q13
PGL3: SDHC; 1q21
PGL4: SDHB; 1p36
PGL5: SDHA; 5p15


Other Mitochondrial Syndromes & Mutations

Mitochondrial syndromes: Infantile & Childhood Onset

Alexander: GFAP; 17q21
Alpers: 1; 2
Ataxia: COX10; 17p13
Brain Iron Accumulation (NBIA)
  c19orf12; 19q12
  PANK2; 20p13
Cardiomyopathy
Coenzyme Q10 deficiency
  COQ2: 4q21
  PDSS2: 6q21
Complex deficiency, Combined
  COXPD
    1: EFG1; 3q25
    2: MRPS16; 10q22
    3: EFTs; 12q13
    4: EFTu; 16p11
    5: MRPS22; 3q23
    6: AIFM1; Xq26
    7: c12orf65; 12q24
    8: AARS2; 6p21
    9: MRPL3; 3q22
    10: MTO1; 6q13
    11: RMND1; 6q25
    12: EARS2; 16p12
    13: PNPT1; 2p15
    14: FARS2; 6p25
    15: MTMFT; 15q22
    16: MRPL44; 2q36
    17: ELAC2; 17p12
    18: SFXN4; 10q26
    19: LYRM4; 6p25
    20: VARS2; 6p21
    21: TARS2; 1q21
    22: ATP5A1; 18q21
    TK2: 16q22
    FBXL4: 6q16
Multiple mitochondrial
  Encephalopathy
    MMDS1: NFU1; 2p13
    MMDS2: BOLA3; 2p13
    MMDS3: IBA57; 1q42
Complex I deficiency
  Cardiomyopathy +: NDUFS2; 1q23
  Encephalopathy
    NDUFA1: Xq24
    NDUFA11: 19p13
    C6ORF66: 6q16
    VARS2: 6p21
  Encephalopathy, Childhood
    NDUFA12L: 5q12
    NDUFS1: 2q33
    NDUFV1: 11q13
  Encephalomyopathy
    NUBPL: 14q12
  Encephalocardiomyopathy
    NDUFV2: 18p11
  Fatal multisystemic: NDUFS4; 5q11
  Leigh: NDUFA9; 12p13
  Lethal neonatal
    NDUFS6: 5p15
    C20orf7: 20p12
    NDUFAF3: 3p21
    NDUFB3: 2q33
  Leigh
  Leigh + Cardiac
Complex II deficiency
  Leigh: SDHA; 5p15
  Leukoencephalopathy: SDHAF1; 19q12
  Iron-Sulfur cluster disorders
Complex III deficiency
  Encephalopathy: UQCRQ; 5q31
  Encephalopathy: UQCC2; 6p21
  Encephalopathy: LYRM7; 5q23
  Encephalopathy, episodic: UQCRC2; 16p12
  Hyperglycemia: CYC1; 8q24
  Hypoglycemia: UQCRB; 8q22
  Leigh: BCS1L; 2q33
Complex IV deficiency
  Cardioencephalomyopathy: SCO2; 22q13
  Development & Multisystem disorder: CEP89; 19q13
  Encephalocardiomyopathy: MTO1; 6q13
  Encephalocardiomyopathy: c12orf62; 12q13
  Encephalomyopathy: FASTKD2; 2p23
  Encephalomyopathy: AIFM1; Xq25
  Hepatic failure: SCO1; 17p13
  Leigh
  Leukodystrophy: COX6B1; 19q13
  Leukodystrophy: APOPT1
  Leukoencepalopathy: AARS2; 6p21
  Spastic ataxia: COX10; 17p13
Complex V deficiency: Disorders
  Cardiomyopathy + Neuropathy: mtATP8
  Cerebrooculofacioskeletal: ATP12 (ATPAF2); 17p11
  Encephalopathy, Neonatal: ATP5A1; 18q21
  Leigh: mtATP6
  NARP: mtATP6
  Neonatal encephalocardiomyopathy: TMEM70; 8q21
  Retardation & Polyneuropathy: ATP5E; 20q13
Dihydrolipoamide dehydrogenase: DLD; 7q31
Encephalocardiomyopathy: TMEM70; 8q21
Encephalopathy: CA5A; 16q24
Encephalopathy: NADK2; 5p13
Encephalopathy, Necrotizing (ANE1): RANBP2; 2q11
Ethylmalonic encephalopathy: ETHE1; 19q13
Finnish neonatal metabolic (GRACILE): BCS1L; 2q33
Fumarate hydratase: 1q42
Glutaricaciduria, Type II: ETFA; 15q23
HADHA: 2p23
Hepatocerebral syndromes
  Hepatoencephalopathy: EFG1; 3q25
  mtDNA depletion
    DGUOK: 2p13
    MPV17: 2p21-p23
HHH: SLC25A15; 13q14
HMGCS2 deficiency: 1p13
HUPRA: SARS2; 19q13
Leigh
Leukodystrophy & Leukoencephalopathy
  AARS2
  COX6B1
  COX10
  COXPD4
  DARS2
  EARS2
  HLD4
  HSP60
  NDUFS1
  mtDNA deletion, Single large
  SDHAF1
  SDHB
  SURF1
  tRNAGlu
Linear Skin Lesions
  Microphthalmia + : HCCS; Xp22
  Microcephaly +: COX7B; Xq21
MEGDEL: SERAC1; 6q25
Menkes & Occipital horn: ATPase 7; Xq12
Mitochondrial ATPase deficiency
Mitochondrial fission defect: DNM1L; 12p11
Myoclonic epilepsy, neonatal: SLC25A22; 11p15
Ponto-Cerebellar hypoplasia 6: RARS2; 6q15
Pyruvate dehydrogenase complex
  PDHA1: Xp22
  PDHB: 3p21
  PDHX: 11p13
  PDP1: 8q22
  DLD: 7q31
  Pyruvate dehydrogenase E2: DLAT; 11q23
  LIAS: 4p14
  TPK1: 7q35
Pyruvate: Other
  Pyruvate carboxylase: 11q13
  Pyruvate transporter (MPC1): 6q27
SCO1: 17p13
Severe neonatal lactic acidosis: SUCLG1; 2
Sudden infant death

Mitochondrial syndromes: Childhood Onset
Mitochondrial syndromes: Adult onset CNS

Migraine & Encephalopathy
Complex I, Subunit 3 (MTND3) ; Mitochondrial DNA

Germanium myopathy

Arsenic trioxide myopathy 148

Mitochondrial Solute Carriers (SLC25A family & Others)

Inner mitochondrial membrane Outer mitochondrial membrane Also see: Mitochondrial protein carriers

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Return to Neuromuscular Syndromes

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