Human Mitoribosome Biogenesis and Its Emerging Links to Disease
Abstract
:1. Introduction
1.1. Mammalian Mitoribosome
1.2. Mitoribosome Biogenesis
2. Mitoribosome Assembly Factors
2.1. GTPases
2.1.1. mt-SSU: ERAL1 and MTG3
2.1.2. mt-LSU: GTPBP5 and GTPBP10
2.1.3. mt-LSU: GTPBP7 and GTPBP8
2.1.4. mt-LSU/mt-SSU: GTPBP6
2.2. RNA Helicases
mt-LSU: DDX28 and DHX30
2.3. RNA Modifying Enzymes
2.3.1. RNA Methyltransferases
mt-SSU: METTL15 and METTL17
mt-SSU: TFB1M (and RBFA) and TRMT2B
mt-LSU/mt-SSU: NSUN4 (and MTERF4)
mt-LSU: MRM1, MRM2 and MRM3
mt-LSU: TRMT61B
2.3.2. Pseudouridine Synthases
mt-LSU: RPUSD4 (Together with RPUSD3, TRUB2, NGRN, WBSCR16, and FASTKD2)
2.4. Endoribonucleases
mt-SSU: YBEY
2.5. Other Ribosomal Assembly Factors
2.5.1. mt-LSU: MTERF3 and MTERF4
2.5.2. mt-LSU: MALSU1-LOR8F8-mt-ACP
2.5.3. mt-LSU: MPV17L2
3. Post-Translational Modifications (PTMs) and Their Role in the Assembly Process
4. Mitoribosome Biogenesis and Disease
4.1. Pathogenic Variants in mt-rRNAs and CP-tRNAVal
4.1.1. 12S rRNA
4.1.2. 16S rRNA
4.1.3. CP-tRNAVal
4.2. Pathogenic Variants in Mitoribosome Proteins
4.2.1. mt-SSU MRPs
4.2.2. mt-LSU MRPs
4.3. Genetic Associations of Mitoribosome Assembly Factors with Disease
4.3.1. GTPases
GTPBPs of mt-LSU Assembly Pathway
4.3.2. RNA Helicases
4.3.3. RNA Methyltransferases and Functional Partners
4.3.4. Functional Partners of Pseudouridine Transferases
4.3.5. Endoribonuclease
4.3.6. Pathogenic Variants in Other Ribosomal Assembly Factors
5. Future Perspectives
Mutation | Mitoribosome Structure | Clinical Symptoms | References |
---|---|---|---|
m.669T > C m.735A > G * m.745A > G m.801A > G m.827A > G m.839A > G m.856A > G m.961T > C * m.961delTinsC * m.961insC(n) * m.1005T > C m.1027A > G m.1095TC m.1116A > G * m.1494C > T m.1192C > A m.1192C > T m.1291T > C m.1310C > T m.1331A > G m.1374A > G m.1452T > C m.1517A > C m.1537C > T | 12S rRNA | Non-syndromic hearing loss; aminoglycoside-induced hearing loss; sensorineural hearing loss | [102,184,185,186,187,188,189,190,191,192,193] |
m.1555A > G | 12S rRNA | Aminoglycoside-induced deafness; Leigh syndrome; cardiomyopathy | [100,101,103,104] |
m.2336T > C | 16S rRNA | Hypertrophic cardiomyopathy | [107] |
m.3090G > A | 16S rRNA | Myopathy | [106] |
m.3093C > G | 16S rRNA | Atypical MELAS syndrome | [105] |
m.2835C > T | 16S rRNA | Rett syndrome; CPEO | [108,109] |
m.1606G > A | tRNAVal | Ataxia, seizures, mental deterioration, myopathy, and hearing loss | [112] |
m.1616A > G | tRNAVal | MELAS and cardiomyopathy | [114] |
m.1624C > T | tRNAVal | Leigh syndrome | [116] |
m.1630A > G | tRNAVal | MNGIE | [118] |
m.1642G > A | tRNAVal | MELAS | [111] |
m.1644G > A | tRNAVal | Adult-onset Leigh syndrome; MELAS; MELAS and hypertrophic cardiomyopathy | [115,119] |
m.1658T > C | tRNAVal | CPEO | [117] |
m.1659T > C | tRNAVal | Learning difficulties, hemiplegia, movement disorder | [113] |
c.356A > G (p.Lys119Arg) | bS1m (MRPS28) | Failure to thrive, sensorineural deafness, liver enlargement, facial dysmorphism, hypoglycemia, and lactic acidosis | [121,122] |
c.328C > T (p.Arg110Cys) and c.340G > A (p.Asp114Asn); c.413G > A (p.Arg138His) | uS2m (MRPS2) | Sensorineural hearing impairment, developmental delay, hypoglycemia, lactic acidemia | [123] |
Not applicable—differential expression | bS6m (MRPS6) | Parkinson’s disease | [124] |
c.550A > G (p.Met184Val) | uS7m (MRPS7) | Congenital sensorineural deafness, progressive hepatic and renal failure, and lactic acidemia | [125] |
360-kb deletion in 2q12.2q12.1 resulting in loss of POU3F3 and MRPS9 | uS9m (MRPS9) | Intellectual disability and dysmorphic features | [126] |
c.322C > T (p.Arg108Cys) | uS14m (MRPS14) | Perinatal hypertrophic cardiomyopathy, neonatal lactic acidosis, growth retardation, dysmorphic features, and neurological involvement | [128] |
c.331C > T (p.Arg111Ter) | bS16m (MRPS16) | Congenital brain abnormalities, facial dysmorphism, brachydactyly, and fatal lactic acidosis | [129] |
393 kb deletion in 7p11.2 affecting 11 genes, including MRPS27 | uS17m (MRPS17) | Psychomotor retardation and dysmorphic features | [130] |
Not applicable—differential expression | mS18b (MRPS18-2) | Prostate cancer | [131] |
c.644T > C (p.Leu215Pro); c.509G > A (p.Arg170His); c.404G > A (p.Arg135Gln); c.605G > A (p.Arg202His); c.1032_1035dup (p.Leu346Asnfs*21) * | mS22 (MRPS22) | Cornelia de Lange-like dysmorphic features, brain abnormalities, hypertrophic cardiomyopathy; skin edema, hypotonia, hypertrophic cardiomyopathy, and perinatal death; primary ovarian insufficiency; neonatal lactic acidosis, brain and heart abnormalities, perinatal death | [132,133,135] |
c.119C > G (p.Pro40Arg) | mS23 (MRPS23) | Hepatic disease | [136] |
c.215C > T (p.Pro72Leu) | mS25 (MRPS25) | Encephalopathy, short stature, microcephaly, and dystonia | [137] |
c.321 + 1G > T, c.322 − 10G > A; c.37G > A (p.Glu13Lys); c.94C > T (p.Gln32*) | mS34 (MRPS34) | Leigh-like or Leigh syndrome | [138] |
c.415-2A>G, c.1747_1748insCT (p.Phe583Serfs*3) | mS39 (MRPS39, PTCD3) | Leigh syndrome | [139] |
c.950C > G (p.Pro317Arg) and large-scale deletion; c.49delC * p.(Arg17Aspfs*57) * | uL3m (MRPL3) | Cardiomyopathy; neonatal lactic acidosis, sensorineural hearing loss, cirrhosis, and interstitial nephritis | [140,141] |
c.542C > T* (p.Ala181Val) * | bL12m (MRPL12) | Neonatal failure to thrive, muscle weakness, abnormal neurological development with psychomotor symptoms | [142] |
c.272T > C (p.Leu91Pro) | uL24m (MRPL24) | Cerebellar atrophy, choreoathetosis, intellectual disability, Wolff-Parkinson-White syndrome | [143] |
c.467T > G (p.Leu156Arg); c.233G > A (p.Arg78Gln) | mL44 (MRPL44) | Infantile cardiomyopathy; adult-onset retinopathy, hemiplegic migraine, Leigh-like lesions, renal insufficiency, and hepatopathy | [144,145] |
0.7 Mb deletion in 20q13.33 | GTPBP5 | Congenital malformations involving trachea-esophageal fistula, esophageal atresia, and cardiac anomalies | [146] |
Not applicable—differential expression | GTPBP6 | Verbal ability and IQ in Klinefelter’s syndrome | [147] |
Not applicable—differential expression | GTPBP7 | Cardiac hypertrophy | [148] |
Not applicable—copy number variation; gene association | GTPBP10 | Glioblastoma clinical outcome; prostate cancer recurrence | [149,150] |
c.707A > T (p.Asn236Ile) | ERAL1 | Perrault syndrome | [151] |
c.1478G > A (p.Arg493His), c.1685A > G (p.His562Arg), c.2342G > A (p.Gly781Asp), c.2344C > T (p.Arg782Trp), c.2353C > T (p.Arg785Cys), c.2354G > A p.Arg785His; c.2093C > T, p.Ser698Phe | DHX30 | Developmental delay, intellectual disability, muscular hypotonia, and gait abnormalities; motor and cognitive delay, congenital clasped thumbs, and unilateral undescended testicles | [152,153,154] |
Not applicable—differential expression | DDX28 | Development and prognosis of colorectal cancer | [155,156] |
Chr7: 2274933 C > T (p.Gly189Arg); not applicable (differential gene expression) | MRM2 | MELAS; non-small cell lung cancer | [157,158,159] |
Not applicable—differential expression | TRMT61B | Alzheimer’s disease; breast cancer | [160,161] |
Not applicable—gene association | METTL15 | Childhood obesity | [162] |
Not applicable—intron variant | TFB1M | Type 2 diabetes risk | [165] |
Not applicable—copy number variation | RBFA | Autism spectrum disorder risk | [167] |
Not applicable—differential expression | NSUN4 | Hepatocellular carcinoma survival outcome | [168] |
Not applicable—differential expression | NGRN | Pancreatic cancer marker; sporadic amyotrophic lateral sclerosis | [169] |
c.1246C > T (p.Arg416X); p.Arg205X and p.Leu255Pro; c.808_809insTTTCAGTTTTG, homoplasmic c.868C > T and heteroplasmic c.1859delT/c.868C>T | FASTKD2 | Mitochondrial encephalopathy; late age onset autosomal recessive MELAS-like syndrome with optic atrophy; mitochondrial encephalomyopathy and hypertrophic cardiomyopathy | [171,172,173] |
Not applicable—gene association; differential expression | FASTKD2 | Pancreatic ductal adenocarcinoma prognosis; Alzheimer’s disease | [160,174] |
0.56-Mb microduplication of 21q22.3, including YBEY | YBEY | Congenital heart disease | [175] |
Not applicable—gene association; copy number variant | YBEY | Breast cancer susceptibility; colorectal adenoma formation | [176,177] |
Not applicable—gene association; copy number variant | MTERF3 | Multiple cancers | [178,179] |
Not applicable—gene association; copy number variant | mt-ACP | Alzheimer’s disease; susceptibility to anxiety disorders | [180,181] |
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Conflicts of Interest
References
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Lopez Sanchez, M.I.G.; Krüger, A.; Shiriaev, D.I.; Liu, Y.; Rorbach, J. Human Mitoribosome Biogenesis and Its Emerging Links to Disease. Int. J. Mol. Sci. 2021, 22, 3827. https://doi.org/10.3390/ijms22083827
Lopez Sanchez MIG, Krüger A, Shiriaev DI, Liu Y, Rorbach J. Human Mitoribosome Biogenesis and Its Emerging Links to Disease. International Journal of Molecular Sciences. 2021; 22(8):3827. https://doi.org/10.3390/ijms22083827
Chicago/Turabian StyleLopez Sanchez, Maria Isabel G., Annika Krüger, Dmitrii I. Shiriaev, Yong Liu, and Joanna Rorbach. 2021. "Human Mitoribosome Biogenesis and Its Emerging Links to Disease" International Journal of Molecular Sciences 22, no. 8: 3827. https://doi.org/10.3390/ijms22083827