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Combined oxidative phosphorylation deficiency 49(COXPD49)

MedGen UID:
1762338
•Concept ID:
C5436616
•
Disease or Syndrome
Synonyms: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
 
Gene (location): MIEF2 (17p11.2)
 
Monarch Initiative: MONDO:0033569
OMIM®: 619024

Clinical features

From HPO
Myalgia
MedGen UID:
68541
•Concept ID:
C0231528
•
Sign or Symptom
Pain in muscle.
See: Feature record | Search on this feature
Exercise intolerance
MedGen UID:
603270
•Concept ID:
C0424551
•
Finding
A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
See: Feature record | Search on this feature
Gait disturbance
MedGen UID:
107895
•Concept ID:
C0575081
•
Finding
The term gait disturbance can refer to any disruption of the ability to walk.
See: Feature record | Search on this feature
Difficulty climbing stairs
MedGen UID:
68676
•Concept ID:
C0239067
•
Finding
Reduced ability to climb stairs.
See: Feature record | Search on this feature
Progressive muscle weakness
MedGen UID:
68704
•Concept ID:
C0240421
•
Finding
See: Feature record | Search on this feature
Ragged-red muscle fibers
MedGen UID:
477048
•Concept ID:
C3275417
•
Finding
An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.
See: Feature record | Search on this feature
Cytochrome C oxidase-negative muscle fibers
MedGen UID:
867360
•Concept ID:
C4021724
•
Finding
An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.
See: Feature record | Search on this feature
Elevated circulating creatine kinase concentration
MedGen UID:
69128
•Concept ID:
C0241005
•
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
See: Feature record | Search on this feature
Decreased activity of mitochondrial complex I
MedGen UID:
393796
•Concept ID:
C2677650
•
Finding
A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.
See: Feature record | Search on this feature
Decreased activity of mitochondrial complex III
MedGen UID:
460434
•Concept ID:
C3149083
•
Finding
A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.
See: Feature record | Search on this feature
Decreased activity of mitochondrial complex IV
MedGen UID:
866520
•Concept ID:
C4020800
•
Finding
A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.
See: Feature record | Search on this feature
Decreased activity of mitochondrial complex II
MedGen UID:
892305
•Concept ID:
C4024705
•
Finding
A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Mitochondrial DNA Copy Number Variations and Serum Pepsinogen Levels for Risk Assessment in Gastric Cancer.
Alikhani M, Saberi S, Esmaeili M, Michel V, Tashakoripour M, Abdirad A, Aghakhani A, Eybpoosh S, Vosough M, Mohagheghi MA, Eshagh Hosseini M, Touati E, Mohammadi M
Iran Biomed J 2021 Sep 1;25(5):323-33. Epub 2021 Aug 22 doi: 10.52547/ibj.25.5.323. PMID: 34425651Free PMC Article
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J
J Inherit Metab Dis 2012 Sep;35(5):749-59. Epub 2012 Jan 10 doi: 10.1007/s10545-011-9440-3. PMID: 22231385

Recent clinical studies

Etiology

Mitochondrial DNA Copy Number Variations and Serum Pepsinogen Levels for Risk Assessment in Gastric Cancer.
Alikhani M, Saberi S, Esmaeili M, Michel V, Tashakoripour M, Abdirad A, Aghakhani A, Eybpoosh S, Vosough M, Mohagheghi MA, Eshagh Hosseini M, Touati E, Mohammadi M
Iran Biomed J 2021 Sep 1;25(5):323-33. Epub 2021 Aug 22 doi: 10.52547/ibj.25.5.323. PMID: 34425651Free PMC Article
Sleep-Disordered Breathing in Adult Patients With Mitochondrial Diseases: A Cohort Study.
Primiano G, Brunetti V, Vollono C, Losurdo A, Moroni R, Della Marca G, Servidei S
Neurology 2021 Jan 12;96(2):e241-e249. Epub 2020 Oct 6 doi: 10.1212/WNL.0000000000011005. PMID: 33024021
Polymorphisms in PARK2 and MRPL37 are associated with higher risk of recurrent venous thromboembolism in a sex-specific manner.
Sundquist K, Ahmad A, Svensson PJ, Zöller B, Sundquist J, Memon AA
J Thromb Thrombolysis 2018 Aug;46(2):154-165. doi: 10.1007/s11239-018-1662-x. PMID: 29671165
Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients.
Heidari MM, Houshmand M, Hosseinkhani S, Nafissi S, Scheiber-Mojdehkar B, Khatami M
Neurol Sci 2008 Dec;29(6):489-93. Epub 2008 Nov 28 doi: 10.1007/s10072-008-1026-y. PMID: 19043662
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.
Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stöckler-Ipsiroglu S, Mandel H, Sengers R, Trijbels F, van den Heuvel L
Ann Neurol 2001 Feb;49(2):195-201. doi: 10.1002/1531-8249(20010201)49:2<195::aid-ana39>3.0.co;2-m. PMID: 11220739

Diagnosis

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.
Ratnaike TE, Greene D, Wei W, Sanchis-Juan A, Schon KR, van den Ameele J, Raymond L, Horvath R, Turro E, Chinnery PF
Nucleic Acids Res 2021 Sep 27;49(17):9686-9695. doi: 10.1093/nar/gkab726. PMID: 34428295Free PMC Article
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S, Beyyumi E, Al Kaabi A, Hertecant J, Barakat D, Al Dhaheri NS, Al-Gazali L, Al Shamsi A
Clin Genet 2021 Nov;100(5):573-600. Epub 2021 Aug 19 doi: 10.1111/cge.14044. PMID: 34374989
Sleep-Disordered Breathing in Adult Patients With Mitochondrial Diseases: A Cohort Study.
Primiano G, Brunetti V, Vollono C, Losurdo A, Moroni R, Della Marca G, Servidei S
Neurology 2021 Jan 12;96(2):e241-e249. Epub 2020 Oct 6 doi: 10.1212/WNL.0000000000011005. PMID: 33024021
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento A, Ortez C, Natera-de Benito D, Olive M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M, Gallano P
Genes (Basel) 2020 May 11;11(5) doi: 10.3390/genes11050539. PMID: 32403337Free PMC Article
Fatigue and neuromuscular diseases.
Féasson L, Camdessanché JP, El Mandhi L, Calmels P, Millet GY
Ann Readapt Med Phys 2006 Jul;49(6):289-300, 375-84. Epub 2006 Apr 25 doi: 10.1016/j.annrmp.2006.04.015. PMID: 16780988

Therapy

Recent advances in neurometabolic diseases: The genetic role in the modern era.
Tein I
Epilepsy Behav 2023 Aug;145:109338. Epub 2023 Jul 13 doi: 10.1016/j.yebeh.2023.109338. PMID: 37453291
Value of circulating miRNA-21 in the diagnosis of subclinical diabetic cardiomyopathy.
Tao L, Huang X, Xu M, Qin Z, Zhang F, Hua F, Jiang X, Wang Y
Mol Cell Endocrinol 2020 Dec 1;518:110944. Epub 2020 Jul 24 doi: 10.1016/j.mce.2020.110944. PMID: 32717421
Emerging therapies in Friedreich's ataxia.
Aranca TV, Jones TM, Shaw JD, Staffetti JS, Ashizawa T, Kuo SH, Fogel BL, Wilmot GR, Perlman SL, Onyike CU, Ying SH, Zesiewicz TA
Neurodegener Dis Manag 2016;6(1):49-65. doi: 10.2217/nmt.15.73. PMID: 26782317Free PMC Article
Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions.
Lee YM, Kang HC, Lee JS, Kim SH, Kim EY, Lee SK, Slama A, Kim HD
Epilepsia 2008 Apr;49(4):685-90. Epub 2008 Feb 5 doi: 10.1111/j.1528-1167.2007.01522.x. PMID: 18266755
The influence of Coenzyme Q10 on total serum calcium concentration in two patients with Kearns-Sayre Syndrome and hypoparathyroidism.
Papadimitriou A, Hadjigeorgiou GM, Divari R, Papagalanis N, Comi G, Bresolin N
Neuromuscul Disord 1996 Jan;6(1):49-53. doi: 10.1016/0960-8966(95)00020-8. PMID: 8845718

Prognosis

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.
Ratnaike TE, Greene D, Wei W, Sanchis-Juan A, Schon KR, van den Ameele J, Raymond L, Horvath R, Turro E, Chinnery PF
Nucleic Acids Res 2021 Sep 27;49(17):9686-9695. doi: 10.1093/nar/gkab726. PMID: 34428295Free PMC Article
Deciphering the potential involvement of PXMP2 and PEX11B in hydrogen peroxide permeation across the peroxisomal membrane reveals a role for PEX11B in protein sorting.
Lismont C, Koster J, Provost S, Baes M, Van Veldhoven PP, Waterham HR, Fransen M
Biochim Biophys Acta Biomembr 2019 Oct 1;1861(10):182991. Epub 2019 May 24 doi: 10.1016/j.bbamem.2019.05.013. PMID: 31129117
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients.
Kovacs-Nagy R, Morin G, Nouri MA, Brandau O, Saadi NW, Nouri MA, van den Broek F, Prokisch H, Mayr JA, Wortmann SB
Neuropediatrics 2018 Dec;49(6):373-378. Epub 2018 Aug 16 doi: 10.1055/s-0038-1667345. PMID: 30114719
Polymorphisms in PARK2 and MRPL37 are associated with higher risk of recurrent venous thromboembolism in a sex-specific manner.
Sundquist K, Ahmad A, Svensson PJ, Zöller B, Sundquist J, Memon AA
J Thromb Thrombolysis 2018 Aug;46(2):154-165. doi: 10.1007/s11239-018-1662-x. PMID: 29671165
DNA Methyltransferase Gene Polymorphisms for Prediction of Radiation-Induced Skin Fibrosis after Treatment of Breast Cancer: A Multifactorial Genetic Approach.
Terrazzino S, Deantonio L, Cargnin S, Donis L, Pisani C, Masini L, Gambaro G, Canonico PL, Genazzani AA, Krengli M
Cancer Res Treat 2017 Apr;49(2):464-472. Epub 2016 Aug 23 doi: 10.4143/crt.2016.256. PMID: 27554481Free PMC Article

Clinical prediction guides

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.
Ratnaike TE, Greene D, Wei W, Sanchis-Juan A, Schon KR, van den Ameele J, Raymond L, Horvath R, Turro E, Chinnery PF
Nucleic Acids Res 2021 Sep 27;49(17):9686-9695. doi: 10.1093/nar/gkab726. PMID: 34428295Free PMC Article
Sleep-Disordered Breathing in Adult Patients With Mitochondrial Diseases: A Cohort Study.
Primiano G, Brunetti V, Vollono C, Losurdo A, Moroni R, Della Marca G, Servidei S
Neurology 2021 Jan 12;96(2):e241-e249. Epub 2020 Oct 6 doi: 10.1212/WNL.0000000000011005. PMID: 33024021
Polymorphisms in PARK2 and MRPL37 are associated with higher risk of recurrent venous thromboembolism in a sex-specific manner.
Sundquist K, Ahmad A, Svensson PJ, Zöller B, Sundquist J, Memon AA
J Thromb Thrombolysis 2018 Aug;46(2):154-165. doi: 10.1007/s11239-018-1662-x. PMID: 29671165
DNA Methyltransferase Gene Polymorphisms for Prediction of Radiation-Induced Skin Fibrosis after Treatment of Breast Cancer: A Multifactorial Genetic Approach.
Terrazzino S, Deantonio L, Cargnin S, Donis L, Pisani C, Masini L, Gambaro G, Canonico PL, Genazzani AA, Krengli M
Cancer Res Treat 2017 Apr;49(2):464-472. Epub 2016 Aug 23 doi: 10.4143/crt.2016.256. PMID: 27554481Free PMC Article
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.
Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stöckler-Ipsiroglu S, Mandel H, Sengers R, Trijbels F, van den Heuvel L
Ann Neurol 2001 Feb;49(2):195-201. doi: 10.1002/1531-8249(20010201)49:2<195::aid-ana39>3.0.co;2-m. PMID: 11220739

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