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. 2020 Aug 16;10(8):1193. doi: 10.3390/biom10081193

Table 1.

Examples of human diseases whose pathologies involve TFAM.

Disease Model Variant mRNA Protein mtDNA Ref.
Mitochondrial DNA depletion syndrome 15 patient +/+ Pro178Leu ↑
in primary fibroblasts		 ↓
in primary fibroblasts		 ↓ copies
in liver and skeletal muscle		 [266]
Extrahepatic cholestasis cell line
rat, patient		 gene disruption ↓
in liver		 (↑)↓
in liver		 ↓ copies
mtDNA deletions
in liver		 [267,268,269]
Cardiomyopathy mouse KO in germline ↓ ↓ ↓copy in +/−depletion
in +/+		 [130]
Cardiomyopathy mouse KO
in heart 		– ↓
in heart		 ↓ transcripts
in heart		 [135,138,264]
Myopathy mouse KO
in skeletal muscle		 – ↓
in muscle		 ↓ copies
↓ transcripts
depletion
in muscle		 [138,139]
Infantile mitochondrial myopathy cell line
patient		 – ↑ 1
↓ 3
↓		 depletion 1,3
skeletal muscle		 [270]
Carotid artery injury rat KD ↑after injury
↓
KD		 ↑
after injury
↓
KD		 ↑ mass
after injury
depletion
KD		 [271]
Chronic obstructive pulmonary disease
(with squamous cell lung cancer)		 cell line
patient		 hyper-methylation of promoter ↓
in lungs 3 		↓
in lungs, skeletal muscle 3 		– [223,272,273]
Gastric cancer cell line KD ↓ ↓ ↓ copies [274]
Colorectal cancer with microsatellite instability cell line
patient		 Leu149Stop frameshift – ↓ ↓ copies [275]
Colon cancer mouse KO
+/−		 – ↓
in intestinal tissue 2 		depletion
↓ copy
↓mass		 [262]
Colon cancer cell line
patient		 ↑
miRNA-590-3p		 ↑ ↑ – [229]
Colon cancer cell line
patient		 ↓
miRNA-214		 ↑ ↑ – [276]
Epidermoid cancer/
Colon adenocarcinoma		 cell line
patient		 chemo-therapeutics treatment ↓↑ ↓↑ – [189,277]
Bladder cancer cell line ↓
miRNA-590-3p		 – ↑ – [230]
Clear cell renal cell carcinoma cell line
patient		 KD 1 ↓ 1 ↓ 1 ↓ copies [278]
Clear cell renal cell carcinoma cell line OE SIRT3 ↑ ↑
↓K154 acetylation		 ↑biogenesis [252]
Non-small cell lung cancer cell line
patient		 KD 1 ↓ 1

↑ 3 		↓ 1

↑ 3 		↓ copies 1

↑ copies 3 		[279]
Lung adenocarcinoma/
Breast cancer		 cell line – ↑in lactic acidosis
in long term estradiol treatment		 – ↑ copies
↑ mass
in lactic acidosis
in long term estradiol treatment		 [280,281]
Lung adenocarcinoma cell line KD,
α-irradiation (α-IR)		 – ↑
in α-IR		 ↑ copies
in α-IR
≈ copies
KD in α-IR		 [282]
Lung adenocarcinoma cell line
patient		 – – ↓ 1
 ↓ biogenesis
↓ volume		 [283]
Glioma cell line
patient		 ↓
miRNA-23b		 ↑
correlation with malignancy		 ↑
correlation with malignancy		 – [227,284]
Glioma cell line
patient		 interaction with KLF16 ↓
in KLF16 OE 		↓
in KLF16 OE 		– [222]
Glioma cell line melatonin treatment ↓ ↓ ↓ transcripts
≈ copies		 [285]
Diffusely infiltrating astrocytoma (a type of glioma) patient – ↑
correlation with malignancy		 – ↓ copies
correlation with malignancy		 [286]
Arsenic-induced Bowen’s disease cell line
patient		 arsenic exposure 1,3
RNA interference 1 		↑ ↑ ↑ copies [287]
Melanoma cell line
patient		 – ↓↑ – mutations [288]
Prostate cancer cell line – ↑
in arsenic exposure		 ↑
in arsenic exposure		 mtDNA point mutation
in arsenic exposure		 [289]
Cervical cancer cell line miRNA-214
OE 		↓ ↓ – [228]
Ovarian cancer patient – – ↑
in nuclei
orrelation with grade		 – [290]
Endometrial cancer
(the estrogen-related type I)		 patient – – ↑
correlation with stage		 ↑ copies [291,292]
Breast cancer (estrogen-positive type) cell line
patient		 KD 1 ↑ 3 ↑ 3 – [293,294]
Hepatocellular carcinoma patient – – ↑ ↓ copies
mtDNA deletions		 [295]
Esophageal squamous cell carcinoma cell line
patient		 KD 1 – ↓ 1 ↑ copies 3

↓ copies 1 		[296,297]
Esophageal squamous cell carcinoma cell line
patient		 KD 1 ↓ 1 ↓ 1 ↓ copy
correlation with malignancy
↓ copies 1 		[298]

↑: Increase; ↓: Decrease; +/+: Homozygous; +/−: Heterozygous; 1: Cell line; 2: Mouse; 3: Patient; KO: Knockout; KD: Knockdown; OE: Overexpression; see Table S1 for more details.