SNPMiner Trials by Shray Alag


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Report for Mutation A3243G

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 6 clinical trials

Clinical Trials


1 Investigation of Clinical Syndromes Associated With mtDNA Point Mutations: MELAS/DCA Clinical Trial

Patients with the MELAS syndrome experience devastating mental impairment. This study will evaluate the effectiveness of the drug dichloroacetate (DCA) to reduce the symptoms of MELAS.

NCT00068913 MELAS Syndrome Drug: Dichloroacetate
MeSH: MELAS Syndrome Syndrome

Inclusion Criteria - A3243G mtDNA point mutation or maternally related to someone who has the mutation - Symptomatic with MELAS, including previous seizure or stroke - Certain laboratory values - Ability to comply with the study protocol Inclusion Criteria - A3243G mtDNA point mutation or maternally related to someone who has the mutation - Symptomatic with MELAS, including previous seizure or stroke - Certain laboratory values - Ability to comply with the study protocol MELAS Syndrome MELAS Syndrome Syndrome Although many organ systems are affected by mitochondrial (mt) DNA point mutations, the nervous system is particularly vulnerable. --- A3243G ---

Inclusion Criteria - A3243G mtDNA point mutation or maternally related to someone who has the mutation - Symptomatic with MELAS, including previous seizure or stroke - Certain laboratory values - Ability to comply with the study protocol Inclusion Criteria - A3243G mtDNA point mutation or maternally related to someone who has the mutation - Symptomatic with MELAS, including previous seizure or stroke - Certain laboratory values - Ability to comply with the study protocol MELAS Syndrome MELAS Syndrome Syndrome Although many organ systems are affected by mitochondrial (mt) DNA point mutations, the nervous system is particularly vulnerable. --- A3243G --- --- A3243G ---

Patients with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) syndrome have the A3243G point mutation and elevated brain lactate levels. --- A3243G ---

Patients with the A3243G mitochondrial mutation and who have had either a stroke or a seizure will be enrolled in this study. --- A3243G ---


2 A Phase IIa Double-Blind, Randomized, Placebo-Controlled, Dose-Finding Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like Episodes

The purpose of this study is to compare the efficacy of two (2) different doses of idebenone with that of a placebo over a one month period on cerebral lactate concentration as measured by magnetic resonance spectroscopy.

NCT00887562 MELAS Syndrome Drug: Idebenone Drug: Idebenone Other: Placebo
MeSH: MELAS Syndrome Brain Diseases Acidosis Acidosis, Lactic
HPO: Acidosis Encephalopathy Lactic acidosis Metabolic acidosis

Inclusion Criteria: - Diagnosis of MELAS with confirmed A3243G mtDNA mutation, or evidence of central nervous system involvement (cognitive problems, migraines, memory loss) - Cerebral lactate level equal to or greater than 5.0 i.u. at baseline - Patients at least 8 and < 65 years of age at baseline - Patients with a body weight > 37 kg/82 lbs at baseline - Stable co-medication/vitamins/supplements within 1 month prior to baseline - Patients who in the opinion of the investigator are able to comply with the requirements of the study, including swallowing the study medication - Negative urine pregnancy test at screening and baseline (female patients of childbearing potential) Exclusion Criteria: - Contraindication to MRS (e.g. --- A3243G ---

metal implant, claustrophobia) - Stroke like event within 2 months prior to baseline - Treatment with idebenone at any dose, or coenzyme Q10 at doses above 100mg/d within 1 month prior to baseline - Inadequate contraception use - Pregnancy and/or breast-feeding - Clinically significant abnormalities of clinical hematology or biochemistry including, but not limited to, elevations greater than 1.5 times the upper limit of normal of aspartate aminotransferase (AST), alanine aminotransferase (ALT) or creatinine - Current abuse of drugs or alcohol - Participation in a trial of another investigational drug within the last month - Other factor that, in the investigator's opinion, excludes the patient from entering the study Inclusion Criteria: - Diagnosis of MELAS with confirmed A3243G mtDNA mutation, or evidence of central nervous system involvement (cognitive problems, migraines, memory loss) - Cerebral lactate level equal to or greater than 5.0 i.u. at baseline - Patients at least 8 and < 65 years of age at baseline - Patients with a body weight > 37 kg/82 lbs at baseline - Stable co-medication/vitamins/supplements within 1 month prior to baseline - Patients who in the opinion of the investigator are able to comply with the requirements of the study, including swallowing the study medication - Negative urine pregnancy test at screening and baseline (female patients of childbearing potential) Exclusion Criteria: - Contraindication to MRS (e.g. --- A3243G ---

Given that there is no effective treatment for MELAS, the investigators propose a Phase II proof of concept trial of idebenone to study its preliminary efficacy in patients with MELAS and the A3243G mtDNA mutation, and to study its safety and tolerability in this patient group. --- A3243G ---

The investigators propose to evaluate 21 patients with the A3243G mitochondrial DNA mutation and MELAS (defined by a history of either seizures or stroke). --- A3243G ---

Primary Outcomes

Description: To compare the efficacy of 1 month treatment with 2 different doses of idebenone with that of placebo on cerebral lactate concentration as measured by magnetic resonance spectroscopy (MRS)

Measure: Mean Change in Cerebral Lactate Concentration (as Measured by Magnetic Resonance Spectroscopy)

Time: Up to 4 weeks from baseline

Secondary Outcomes

Description: To compare the efficacy of 1 month treatment with 2 different doses of idebenone with that of placebo on venous lactate concentration

Measure: Mean Change in Venous Lactate Concentration

Time: Up to 4 weeks from baseline

Description: To assess changes following 1 month treatment with 2 different doses of idebenone with that of placebo in fatigue as assessed by the Fatigue Severity Scale (FSS). Scale score minimum is 9 (least fatigue) and maximum is 63 (maximum fatigue). Scores of 36 or less indicate possibility that patient may not be suffering from fatigue, while scores 36 and over suggest suffering from fatigue

Measure: Mean Change in Score on the Fatigue Severity Scale (FSS)

Time: Baseline and Week 4

3 A Phase 2a, Double Blind, Randomized, Placebo-controlled, 28 Day, Two-arm, Parallel Group Study of A0001 in Patients With the A3243G Mitochondrial DNA Point Mutation and Evidence of Impaired Mitochondrial Function

This is a phase 2a, double-blind, placebo-controlled, single-center study. Twenty-one patients who qualify for the study will be randomly assigned to either active drug or placebo. The study will take place at Newcastle University. Patients will have a 66% chance of getting active drug. Patients will be required to take study treatment orally twice a day for 28 days. A baseline visit will occur within 21 days of screening visit. All patients will be followed for 1 week after completion of study or early withdrawal from the study.

NCT01074359 Neuromuscular Disease Drug: A0001 (alpha-tocopherolquinone) Drug: Placebo
MeSH: Neuromuscular Diseases

A Phase 2a, Double Blind, Randomized, Placebo-controlled, 28 Day, Two-arm, Parallel Group Study of A0001 in Patients With the A3243G Mitochondrial DNA Point Mutation and Evidence of Impaired Mitochondrial Function. --- A3243G ---

Safety and Efficacy Study of A0001 in Patients With the A3243G Mitochondrial DNA Point Mutation This is a phase 2a, double-blind, placebo-controlled, single-center study. --- A3243G ---

Inclusion Criteria: - Diagnosis of neuromuscular symptoms due to the A3243G mitochondrial DNA point mutation - PCR/ATP ratio of <1.9 following the Cardiac MRS at screening Exclusion Criteria: - Any major illness not due to the A3243G mitochondrial DNA point mutation in the past three months or any significant ongoing chronic medical illness, especially significant central nervous neurological disease limiting capacity to carry out the study - Use of any investigational product within the past 30 days Inclusion Criteria: - Diagnosis of neuromuscular symptoms due to the A3243G mitochondrial DNA point mutation - PCR/ATP ratio of <1.9 following the Cardiac MRS at screening Exclusion Criteria: - Any major illness not due to the A3243G mitochondrial DNA point mutation in the past three months or any significant ongoing chronic medical illness, especially significant central nervous neurological disease limiting capacity to carry out the study - Use of any investigational product within the past 30 days Neuromuscular Disease Neuromuscular Diseases null --- A3243G ---

Inclusion Criteria: - Diagnosis of neuromuscular symptoms due to the A3243G mitochondrial DNA point mutation - PCR/ATP ratio of <1.9 following the Cardiac MRS at screening Exclusion Criteria: - Any major illness not due to the A3243G mitochondrial DNA point mutation in the past three months or any significant ongoing chronic medical illness, especially significant central nervous neurological disease limiting capacity to carry out the study - Use of any investigational product within the past 30 days Inclusion Criteria: - Diagnosis of neuromuscular symptoms due to the A3243G mitochondrial DNA point mutation - PCR/ATP ratio of <1.9 following the Cardiac MRS at screening Exclusion Criteria: - Any major illness not due to the A3243G mitochondrial DNA point mutation in the past three months or any significant ongoing chronic medical illness, especially significant central nervous neurological disease limiting capacity to carry out the study - Use of any investigational product within the past 30 days Neuromuscular Disease Neuromuscular Diseases null --- A3243G --- --- A3243G ---

Inclusion Criteria: - Diagnosis of neuromuscular symptoms due to the A3243G mitochondrial DNA point mutation - PCR/ATP ratio of <1.9 following the Cardiac MRS at screening Exclusion Criteria: - Any major illness not due to the A3243G mitochondrial DNA point mutation in the past three months or any significant ongoing chronic medical illness, especially significant central nervous neurological disease limiting capacity to carry out the study - Use of any investigational product within the past 30 days Inclusion Criteria: - Diagnosis of neuromuscular symptoms due to the A3243G mitochondrial DNA point mutation - PCR/ATP ratio of <1.9 following the Cardiac MRS at screening Exclusion Criteria: - Any major illness not due to the A3243G mitochondrial DNA point mutation in the past three months or any significant ongoing chronic medical illness, especially significant central nervous neurological disease limiting capacity to carry out the study - Use of any investigational product within the past 30 days Neuromuscular Disease Neuromuscular Diseases null --- A3243G --- --- A3243G --- --- A3243G ---

Inclusion Criteria: - Diagnosis of neuromuscular symptoms due to the A3243G mitochondrial DNA point mutation - PCR/ATP ratio of <1.9 following the Cardiac MRS at screening Exclusion Criteria: - Any major illness not due to the A3243G mitochondrial DNA point mutation in the past three months or any significant ongoing chronic medical illness, especially significant central nervous neurological disease limiting capacity to carry out the study - Use of any investigational product within the past 30 days Inclusion Criteria: - Diagnosis of neuromuscular symptoms due to the A3243G mitochondrial DNA point mutation - PCR/ATP ratio of <1.9 following the Cardiac MRS at screening Exclusion Criteria: - Any major illness not due to the A3243G mitochondrial DNA point mutation in the past three months or any significant ongoing chronic medical illness, especially significant central nervous neurological disease limiting capacity to carry out the study - Use of any investigational product within the past 30 days Neuromuscular Disease Neuromuscular Diseases null --- A3243G --- --- A3243G --- --- A3243G --- --- A3243G ---

Primary Outcomes

Measure: Improvement in the rate of ATP recovery ("Vmax") in cardiac muscle as measured by 31Phosphorous Magnetic Resonance Spectroscopy (31P-MRS)

Time: Baseline and Day 28

Secondary Outcomes

Measure: Improvement in cardiac structure and function as measured by Magnetic Resonance Imaging (MRI)

Time: Baseline and Day 28

Measure: Exercise tolerance as measured by a 6 minute walk test

Time: Baseline, Day 14 and Day 28

Measure: Improvement in the rate of Maximal ATP recovery (Vmax) as measured by 31Phosphorous Magnetic Resonance Spectroscopy (31P-MRS) MRI of calf muscle during a standardized isolated calf muscle procedure of 2 bouts of plantar flexion exercise

Time: Baseline and Day 28

Measure: Fasting blood lactate, fasting blood glucose, fasting blood insulin , fasting blood HbA1c levels

Time: Baseline, Day 14 and Day 28

Measure: Mitochondrial disease severity (NMDAS)

Time: Baseline and Day 28

Measure: Quality of life (SF-36® Health Survey Questionnaire)

Time: Baseline and Day 28

Measure: Global impression of clinical severity

Time: Baseline, Day 14 and Day 28

Measure: Modified fatigue impact scale

Time: Baseline, Day 14 and Day 28

4 Pilot Study to Investigate the Efficacy of L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome.

MELAS patients suffer from exercise intolerance, weakness, poor vision or blindness, poor growth, developmental delay, and deafness. They also have unique 'stroke-like' episodes (SLEs) which are not due to blockages of large or medium arteries. These 'strokes' are thought to be due to energy failure of very small brain blood vessels combined with energy failure in the mitochondria (cell battery) of the brain cells, especially in the back region of the brain in the vision centre. This leads to visual loss and paralysis. The overall goal of this study is to better understand the mechanism of these SLEs at the level of the brain cells and small blood vessels.

NCT01603446 MELAS Syndrome Drug: L-Arginine
MeSH: MELAS Syndrome Syndrome

Inclusion Criteria: Experimental Siblings with MELAS (A3243G) syndrome - 17-23 years - Followed Neurometabolic Clinic at the Hospital for Sick Children will be studied. --- A3243G ---

Primary Outcomes

Description: We will study exercising quadriceps using our MR-compatible up-down ergometer and our well established aerobic exercise protocol at 65 % of maximal voluntary contraction.

Measure: Muscle function investigation via 31P-Magnetic resonance spectroscopy

Time: 60 to 105 minutes post dose

Secondary Outcomes

Description: Maximal incremental cycle ergometry is conducted in our CardioRespiratory Exercise Lab at HSC by our established protocols (26). Serum CK and quantitative AA (for arginine, ornithine and citrulline) will be measured pre- and post- exercise as well as eNO in order to correlate aerobic exercise parameters with serum arg and eNO levels..

Measure: Total body maximal aerobic capacity

Time: 60-75 mins post dose

Description: Functional MRI-Blood oxygen level dependent (BOLD) of brain

Measure: CerebroVascular Reactivity

Time: 75-105 mins post dose

Description: eNO will be measured using single breath on-line measurements for the assessment of lower airway Nitric Oxide

Measure: Exhaled Nitric Oxide (eNO)

Time: 75 mins pre dose, 75 mins post dose

5 A Randomized, Double-Blind, Placebo-Controlled, Single Ascending Dose Study to Assess the Safety, Tolerability, and Pharmacokinetics of ME1100 Inhalation Solution (Arbekacin Inhalation Solution) Administered to Healthy Volunteers

This is a single-center, randomized, double-blind, placebo-controlled, sequential group study. The primary objective of this study is to assess the tolerability and safety of single doses of ME1100 inhalation solution (orally inhaled arbekacin). The secondary objective is to determine the systemic exposure to, and urinary elimination of, ME1100.

NCT01907776 Healthy Drug: ME1100 inhalation solution Drug: ME1100 placebo inhalation solution

heteroplasmy) suggestive of increased risk of hearing loss (MT-RNR1 [A1555G] for mitochondrial 12S ribosomal RNA gene or MT-TS1 [A3243G] for mitochondrial transfer RNA serine 1) - History of parent, sibling or parental sibling reporting hearing loss before age 65 years - History of malignancy - History of clinically significant alcohol or drug abuse - History within last 6 months or current use of any tobacco product including e-cigarettes - Positive drug screen for drugs of abuse - Positive test for HIV, Hepatitis B or Hepatitis C - Use of any prescription or over-the-counter medications (except oral or hormonal contraceptives), herbal supplements, or vitamins within 14 days of Visit 2 - Known hypersensitivity to any aminoglycoside or bacitracin antibiotic - Female of childbearing potential with a positive urine pregnancy test, or currently breast feeding. --- A1555G --- --- A3243G ---

Primary Outcomes

Measure: Number of participants with adverse events

Time: from Baseline to Day 8-10

Measure: Number of participants with abnormal physical examinations

Time: from Baseline to Day 8-10

Measure: Number of participants with abnormal 12-lead electrocardiograms

Time: from Baseline to Day 8-10

Measure: Number of participants with abnormal vital signs

Time: from Baseline to Day 8-10

Measure: Number of participants with abnormal safety laboratory measurements

Time: from Baseline to Day 8-10

Secondary Outcomes

Measure: Serum Concentration of ME1100

Time: 5, 15, 30 minutes and 1, 2, 3, 4, 6, 8, 12, 18 and 24 hours post START of dosing

Measure: Urinary elimination of ME1100

Time: 0-6, 6-12, 12-24, 24-48 and 48-72 hours after single dosing

6 An Open-label, Single Dose Study to Assess Intrapulmonary Pharmacokinetics of ME1100 Inhalation Solution Administered to Healthy Volunteers

This is a single-center, open-label, single-dose study. The primary objective is to determine Epithelial Lining Fluid (ELF) levels of ME1100 after a single orally inhaled dose. The secondary objectives are to determine systemic exposure to inhaled ME1100 and to assess tolerability and safety of a single dose of ME1100 inhalation solution.

NCT01961830 Healthy Drug: ME1100 inhalation solution

heteroplasmy) suggestive of increased risk of hearing loss (MT-RNR1 [A1555G] for mitochondrial 12S ribosomal RNA gene or MT-TS1 [A3243G] for mitochondrial transfer RNA serine 1) - History of parent, sibling or parental sibling reporting hearing loss before age 65 years - History of malignancy - History of clinically significant alcohol or drug abuse - History within last 6 months or current use of any tobacco products including e-cigarettes. --- A1555G --- --- A3243G ---

Primary Outcomes

Description: Each subject will undergo fiber-optic bronchoscopy for the collection of bronchoalveolar lavage fluid at one of the following time points:5 minutes after END of dosing, 0.5, 1, 3, 6 and 12 hrs post START of dosing.

Measure: Pharmacokinetics profile in ELF

Time: 0-12 hours after START of Dosing

Secondary Outcomes

Measure: Serum Concentration of ME1100

Time: 2, 5, 10 minutes after END of dosing, 0.5, 1, 3, 6 and 12 hrs post START of dosing

Measure: Number of participants with abnormal safety laboratory measurements

Time: from Baseline to Day 3


HPO Nodes


Encephalopathy
Genes 332
ACY1 SCN9A KCNQ2 RANBP2 SIK1 DHDDS NDUFA1 CLPB WDR45 NDUFB3 SCN8A CUX2 SCN1A SLC35A1 SLC6A1 ND1 KCNA2 SLC25A15 ACAD9 TRNS1 KCNB1 PARS2 TSEN54 TMEM70 NDUFV2 GABRB3 UBA5 SLC2A1 BSCL2 SLC25A13 CLCN4 SCN3A GABRA2 NDUFS6 NDUFAF4 COX2 CPT1A SCN1A PCK1 NUBPL COQ2 TIMM50 NDUFB10 FGF12 YWHAG IBA57 TGFB1 TRNQ GRIN1 SLC25A20 NADK2 HMGCL UBA5 CACNA2D2 NECAP1 DOCK7 TRIT1 ND6 NBAS GABBR2 CDKN2A SCN3A SUCLG1 NAXE LYRM7 TRAK1 DNM1L KCNQ5 NDUFAF5 TREX1 TRNK NAXD COX15 DENND5A CHEK2 TBC1D24 GABRG2 TRNV NDUFV2 COX3 DNM1 GABRB3 SLC25A12 GLS GCDH GPR35 PCCB NADK2 NDUFA11 ATP5F1A CACNA1E NDUFAF4 CYFIP2 GRIN2D GBA UGT1A1 ALG9 DNM1 NUS1 RNASEH2C MDM2 COG8 TRNW NRXN1 COQ4 FBXL4 RANBP2 SCN1B PARS2 NDUFS2 GNAO1 SLC22A5 NDUFS7 KCNT1 SERAC1 TBC1D24 BOLA3 LIPT2 WWOX MPC1 GBA PIGP HCN1 CYTB CCDC88A PNKP KMT2E PPP3CA GRIN2D SLC1A2 ETHE1 SLC25A22 TBCK ROGDI BSCL2 STXBP1 TCF4 SLC22A5 NTRK2 SLC19A3 AP2M1 ATP6V1A KCNT2 AP3B2 MST1 COG8 NDUFV1 STXBP1 SLC25A22 TSFM KYNU GRIN2B COX1 HADH ARV1 ATAD1 CYFIP2 CDKL5 TRNF NDUFB11 GABRG2 GPT2 NDUFA11 ATP1A3 TWNK NAGS TRAPPC12 SLC13A5 DLD CPT2 TK2 ATP5F1D CACNA1B ATP5F1A AARS1 RNF13 TRNS2 FCSK FADD PRNP ASNS PHACTR1 NDUFS7 DHDDS AP3B2 ITPA SLC19A3 NDUFAF3 EEF1A2 ARX BCS1L CACNA1A TRNK SLC25A15 PNPO ARV1 ND2 CYC1 NDUFS1 PLCB1 GLYCTK ACY1 CACNA1B XIAP ARHGEF9 NDUFAF2 ND1 NDUFS4 ACAD9 NEUROD2 ADAM22 SLC13A5 COQ9 SLC25A1 PACS2 SZT2 CHD2 NDUFA6 CLP1 CARS2 CARS2 FADD MEF2C NDUFA6 CAD NDUFAF1 GCSH AARS1 TRAK1 MDH2 SYNGAP1 CHD2 HCN1 CACNA1A NDUFS3 SERPINI1 TRNL1 WWOX SCN8A NDUFS8 MECP2 GABRB2 GUF1 KCNA2 ST3GAL3 NDUFS6 SH2D1A TRNC SLC12A3 MAPK10 GLUL SPTAN1 D2HGDH ARHGEF9 SUCLA2 GABRA5 PPP3CA NDUFS3 NDUFB9 ZNHIT3 NDUFB3 CPLX1 STAT2 GABRB1 SLC6A9 KCNQ2 HADH LIAS GABRB2 KYNU PIGA TCF4 PNPT1 TIMMDC1 NUS1 KCNA2 AMT SZT2 FGF12 HNRNPU TBCE NECAP1 HIBCH TUFM FOXRED1 EEF1A2 CUX2 ND3 CNPY3 ACTL6B CNKSR2 ACSF3 DGUOK UNC80 TBCE NTRK2 NRXN1 TMEM126B ND5 TH CNTNAP2 SYNJ1 NDUFAF1 PCCA PNPO KCNB1 ATP6V1A SYNGAP1 AMACR CLCNKB NDUFAF2 SIK1 FRRS1L TP53 PMPCB CLTC DNM1 SLC1A2 DPM2 GLDC HTRA1 TBCD GABRA1 NDUFS4 RNASEH2B GCDH SLC35A2 ETHE1 SCN2A CHD2 SYNJ1 DLD
Metabolic acidosis
Genes 101
PDHX ACADVL HMGCL DLD RYR1 HPD STX3 VPS33B MCCC2 BCS1L NDUFV1 MCCC1 ACADM PNPO NDUFAF4 MYO5B FBP1 MMAA IBA57 NDUFA2 GLYCTK HMGCL MRPS22 UQCRB KCNJ5 CA5A GSS MTO1 SCNN1B CACNA1S VIPAS39 C1QBP NDUFA6 NDUFAF1 GK GALT MCEE ALDOB IVD EHHADH NDUFB11 PLPBP GCDH OGDH CTNS PCCB PPA2 MMAB DPYS HPD AGXT LCT SLC4A1 MLYCD ALDH6A1 ALDOB BTD NDUFA9 HNF4A SLC5A1 BTD NDUFS7 AGXT PLVAP FH HLCS SCNN1G TANGO2 KYNU POLG2 SLC25A19 INVS WNK1 SCNN1A RYR1 HIBCH NDUFB8 TUFM NR3C2 ACAT1 UQCRC2 SLC52A1 MMUT HSD17B10 CYP11B2 SLC37A4 CUL3 UQCC2 GFM1 KYNU AUH PCCA PNPO SLC25A3 SLC25A3 MMACHC IVD ACADS FBP1 GCDH PRDX1
Lactic acidosis
Genes 221
NDUFA1 YARS2 MPV17 NDUFB3 COA8 ND1 ACAD9 LYRM4 TRNS1 PUS1 COQ2 TMEM70 ND4 TYMP NDUFV2 DBT TRNT TYMP TRMU NDUFS6 COX2 TACO1 SLC37A4 FBP1 PCK1 NUBPL COQ2 NDUFB10 IBA57 TRNQ SLC25A4 TRNQ NADK2 BCKDHA TRNN ND6 SURF1 CA5A MTO1 SUCLG1 TRNT NAXE BCS1L TRMT10C LYRM7 DNM1L LARS1 NDUFAF5 COX6B1 MRPS14 DLAT LRPPRC TRNV NDUFV2 COX3 SDHA LARS2 PPM1B TRMU COX8A PCCB CAMKMT NDUFA11 NDUFAF4 AGK MLYCD SLC25A26 ATP5F1E SDHD TRNW MRPS16 FBXL4 TRNF PNPLA8 NFU1 NDUFS2 COX14 ATPAF2 SERAC1 BOLA3 LIPT2 MPC1 BCKDHB AARS2 ELAC2 CYTB PUS1 PET100 MICOS13 UQCC3 ETHE1 COX20 NDUFAF6 PHKG2 PREPL SLC25A19 HSD17B10 PDSS2 NDUFV1 ND6 NDUFS1 SLC37A4 TSFM MRPS7 COX1 MIPEP ISCU FARS2 ND5 SLC25A3 TRNF NDUFB11 EARS2 NDUFAF3 NDUFA11 POLG PDHX HADHA DLD ATP5F1D COA8 TRNH BCS1L TRNS2 NDUFA10 NDUFS7 FOXRED1 RRM2B MRPS34 NDUFAF3 BCS1L PDP1 TRNK TRNL1 ND2 CYC1 RMND1 NDUFS1 USP18 AGK SLC25A4 ND1 NDUFS4 TRNS2 ACAD9 G6PC TAZ COQ9 FASTKD2 NDUFA6 TRNS1 LIPT1 NDUFAF5 TRNS1 TRNE ALDOB SDHAF1 NDUFS3 COX15 OGDH TRNL1 NDUFS8 COX1 TK2 NDUFS6 TRNC POLG ND1 SUCLA2 NDUFS3 NDUFB9 COQ8A PC NDUFB3 FH TRNW SCO2 COX3 HADH LIAS GFER TANGO2 SDHA PDHB TIMMDC1 SLC3A1 BCS1L COX2 SCO1 TPK1 TUFM FOXRED1 PDHA1 PHKG2 COQ8A ND3 COA6 DGUOK SLC25A42 GTPBP3 COX10 HADHB TMEM126B ND5 PHKA2 COX10 YARS2 NDUFAF1 PCCA WARS2 NDUFS2 TRNT1 NDUFAF2 SLC25A3 SFXN4 SLC25A13 SLC25A4 NDUFS4 RRM2B ETHE1 DLD