. 2022 Dec 2;23(23):15166. doi: 10.3390/ijms232315166

Table 1.

mtDNA mutations in kidney diseases.

Mutation	Gene	Clinical Characters	Diagnosis	Reference
m.616T>C	MT-tRNA^Phe	Recurrent swelling and pain	CKD	[28]
m.616T>C	MT-tRNA^Phe	Renal insufficiency	Hyperuricemia	[28]
m.3243A>G	MT-TL1	Chest tightness and shortness of breath	Membranous nephropathy	[99]
		Hyperlactatemia
		Hyperuricemia
		Proteinuria
m.6145G>A	MT-CO1	Chronic tubulointerstitial changes	Rhabdomyolysis	[100]
m.6145G>A	MT-CO1	Elevated serum creatinine level Dark-colored urine Mitochondrial abnormalities	Rhabdomyolysis	[100]
m.616T>C	MT-tRNA^Phe	Developmental delay Epilepsy Hypertension Electrolyte disturbance Chronic renal insufficiency	Autosomal-dominant tubulointerstitial kidney disease	[101]
m.13513G>A m.13514G>A	MT-ND5	Anuric AKI	Tubulo-interstitial kidney disease	[102]
		Acute pulmonary edema
		Hyperlactatemia with metabolic acidosis
		Proteinuria
		Hypertension
m.4216T>C	MT-ND1	Higher levels of fasting glucose	DKD	[103]
m.4216T>C	MT-ND1	Decreased renal function	DKD	[103]
3571_3572insC	MT-ND1	-	Renal oncocytoma	[104]
3571delC
10952_10953insC	MT-ND4
11038delA
12384_12385insT	MT-ND5
12390_12391insC
m.13493T>C
m.3243A>G	MT-TL1
m.3565T>AC	MT-ND1	-	ChRCC	[105]
m.3922G>A
m.4569G>A	MT-ND2
m.4969G>C
m.10806G>A	MT-ND4
m.11866A>AC
m.12384TC>T	MT-ND5
m.12417C>CA
m.13127AC>A
m.13206CTG>C
m.13230CA>C
m.14159C>A	MT-ND6
m.6490T>C	MT-CO1
m.9651C>T	MT-CO3
m.3243A>G	MT-TL1	Proteinuria Decreased eGFR Hyperuricemia	FSGS	[106]
			Nephrosclerosis
			DKD
			Tubulointerstitial nephropathy
			Minor glomerular abnormality
m.3243A>G	MT-TL1	Osteoporosis	Nephrolithiasis	[107]
		Bilateral sensorineural deafness
		Sensory axonal neuropathy
m.6129G>A	MT-CO1	-	Von Hippel-Lindau renal oncocytoma	[108]
m.8993T>G	MT-ATP6	Proteinuria Decreased eGFR	Neuropathy, ataxia and retinitis pigmentosa syndrome	[109]
m.8993T>G	MT-ATP6	Proteinuria Decreased eGFR	End-stage renal disease	[109]
m.3243A>G	MT-TL1	Wolff-Parkinson-White syndrome Proteinuria	Chronic progressive external ophthalmoplegia	[110]
m.3243A>G	MT-TL1	Wolff-Parkinson-White syndrome Proteinuria	FSGS	[110]
m.547A>T	MT-HSP	Interstitial fibrosis	Tubulointerstitial kidney disease	[111]
m.616T>C	MT-tRNAPhe	Tubular atrophy	Tubulointerstitial kidney disease	[111]
m.09155A>G	MT-ATP6	Central obesity Proteinuria Impaired glucose tolerance	Maternally inherited deafness and diabetes FSGS	[112]
m.5540G>A	MT-TW	Proteinuria Hypertension	Cataract	[113]
			Basal ganglia calcification
			Retinitis pigmentosa
m.9267G>C m.5913G>A	MT-CO3 MT-CO1	Hypertension	Mitochondrial diabetes DKD	[114]
		Nephropathy
		Hyperglycemia
		Insulin resistance
		Deafness
m.7501T>A	MT-tRNA^Ser	Proteinuria	Glomerulosclerosis Diabetes mellitus	[115]
		Hypertension
		Hyperglycemia

Abbreviations: eGFR, estimated glomerular filtration rate; FSGS, focal segmental glomerulosclerosis; DKD, diabetic kidney disease; AKI, acute kidney injury; ChRCC, chromophobe renal cancer; CKD, chronic kidney disease.