Table 1.

Ribosome dysfunction and various human diseases

Diseases		Ribosome dysfunction	Clinical manifestation	Therapeutic regimen	Year, authors, and references
Congenital diseases	Diamond-Blackfan anemia	Mutations in genes such as RPS19, RPS24, RPS17, RPL35A, RPL5, and RPL11	Macrocytic anemia, short stature, craniofacial defects, and thumb abnormalities.	Corticosteroids; red cell transfusions; stem cell transplantation.	1978 Nathan DG 103, 104, 105
	5q-syndrome	Mutation of the RPS14 gene	Macrocytic anemia, hypo lobulated micro megakaryocytes.	Lenalidomide; translation enhancer; L-leucine.	1986 van den Berghe H 106,107,108
	Schwachman-Diamond syndrome	SBDS gene defect	Pancreatic insufficiency and bone marrow dysfunction.	Pancreatic enzymatic replacement; transfusions of packed red blood cells (PRBC) and platelet.	2003 Boocock GR 100, 102, 109
	Dyskeratosis congenita	DKC1 gene defect	The triad of oral leukoplakia, nail dystrophy, and reticular hyperpigmentation.	Surveillance for associated complications; stem cell transplantation.	1999 Mitchell JR 110
	Cartilage hair hypoplasia	RMRP gene defect	Short limbed short stature, hypoplastic hair, defective immunity and erythrogenesis.	Prevention of secondary complications.	2001 Ridanpää M 111
	Treacher Collins syndrome	TCOF1 POLR1D, or POLR1B gene defect	Bilateral and symmetric down slanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.	Tailored to the specific needs of each individual; craniofacial reconstruction.	2008 Jones NC 112
	Congenital mental retardation	NUFIP-1	Severe distraction, poor memory, and speech ability.	None.	2007 Caselli R 113
Neurological diseases	Stroke	Disturbance of ribophagy and ERS	Sudden weakness on one face, arm or leg, fainting, confusion, and severe headache.	Thrombolytic therapy; surgery.	2014 Carloni S 114,115
	Alzheimer's disease	Decreases in protein contents and the damage of ribosome function	Dementia, cognitive impairment, and dysfunction in global activities.	Cholinesterase inhibitors; memantine; Ab-directed therapies; tau-directed therapeutics.	2005 Ding Q 116,117,118
	Parkinson's disease	18SrRNA, 28SrRNA	Movement problems such as rigidity, slowness, and tremor.	Levodopa; dopamine agonists; and monoamine oxidase-B (MAO-B) inhibitors; deep brain stimulation; MRI-guided focused ultrasound.	1982 Mann DM 119,120,121
	Huntington's disease	Ltn1, Tae2, and heat shock transcription factor 1 (Hsf1)	Involuntary choric movements, behavioral changes and cognitive impairment.	HTT-targeted therapies; nonselective or allele-selective HTT silencing.	2016 Yang J 124,125,126
	Motor neuron disease	NEMF mutation	Motor neurons degeneration, neurogenic muscle atrophy, and movement disorders.	Respiratory support, nutritional support, symptomatic treatment, drug treatment.	2020 Martin PB 129
	Jabi-Elahi syndrome	GTPBP2 mutation	Dystonia, motor and sensory neuropathy, ataxia, and cognitive impairment.	Symptomatic treatment, drug treatment.	2018 Bertoli-Avella AM 130
Malignant tumors	Acute myelogenous leukemia	TP53 mutations, concomitant with some ribosomopathies	Clonal expansion of abnormally differentiated blasts of myeloid lineage.	Induction therapy; post remission therapy; consolidation chemotherapy with a cytarabine-based regimen.	2016 Orsolic I 131,132,133,134
	Glioblastomas	Mutations or deletion of RPL5 gene	Headache, nausea and vomiting, epilepsy, and blurred vision.	Incorporating surgery, radiotherapy, systemic therapy (chemotherapy, targeted therapy), and supportive care	2018 Pelletier J 132,137
	Melanoma	Mutations or deletion of RPL5 and RPL11 genes	Damaged skin and pigmentation.	Surgical excision and lymph node biopsy; adjuvant treatment.	2019 Sulima SO 137
	Breast cancer	Mutations or deletion of RPL5 and RPL11 genes	Breast lumps, nipple discharge, and skin changes.	Surgery, chemotherapy, radiotherapy, systemic therapy.	2009 Belin S 136,137
	Gastric, endometrial and colorectal cancer	Mutations of the RPL22 gene; RPL23A gene amplification and RPSA gene mutation	Digestive symptoms, and anemia.	Surgery, chemotherapy, radiotherapy, systemic therapy.	2019 Sulima SO 129,137
	Uterine cancer	RPL23A gene amplification and RPSA gene mutation	Painless hematuria, frequent urination, urgency and other urinary symptoms.	Surgery, chemotherapy, radiotherapy, systemic therapy.	2019 Sulima SO 137
	Metastatic neuroblastoma	Mutations of NUFIP-1	Fever, general malaise, weight loss, bone pain, constipation or diarrhea.	Surgery, chemotherapy, radiotherapy.	2018 Wei JS 138
	Acute lymphoblastic leukemia	Mutations of union gene ETV6-NUFIP1	Anemia, fever and infection, bleeding, and organ tissue infiltration.	Hematopoietic stem cell transplantation, induction therapy; post remission therapy; consolidation chemotherapy with a cytarabine-based regimen.	2019 Mata-Rocha M 139
Other diseases	Lupus-like syndrome	Ro protein	An autoimmune syndrome characterized by anti-ribosomal antibodies, anti-chromatin antibodies, and glomerulonephritis.	Promoting the expression of Ro protein, avoiding ultraviolet radiation, immunotherapy.	2003 Xue D 140
	Cardiovascular disease	R-IMPP selectively bind to human 80S ribosomes	Palpitation, shortness of breath, chest tightness, chest pain, fatigue, and edema.	Inhibiting the expression of convertase subtilisin/ kexin type 9 (PCSK9) protein	2016 Pellegrino S 141
	Inflammatory bowel disease	Decline of ribosome biogenesis eIF5A	Abdominal pain, diarrhea, bloody stools, and weight loss.	Targeted regulation of ribosome biogenesis eIF5A.	2016 Figueiredo VC 142,143
	Hepatitis C	Disorder of interaction between ribosomal proteins and 18SrRNA	Nausea, decreased appetite, general weakness, and jaundice.	Targeting the interaction between ribosomal proteins and 18SrRNA.	2018 Bastide A 144
	Severe sepsis	Nucleophosmin	Organ dysfunction, circulatory failure, and shock.	Acting as an alarmin to detect severe sepsis patients early.	2009 Nawa Y 145

Abbreviations: RPs: ribosomal proteins; ERS: endoplasmic reticulum stress; NUFIP-1: nuclear fragile X mental retardation-interacting protein 1; TP53: tumor protein 53.