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Stem Cell

 

List of diseases where iPSCs have been used for gene therapy and disease modeling.

Disease/syndrome Cause(s) Features Cells used for iPSC generation
Becker type muscular dystrophy (BMD) Mutation in dystrophin gene Loss of walking ability, but progression slower than DMD Fibroblasts
Downs syndrome/trisomy 21 Trisomy of chromosome 21 Cardiac and cognitive defects, premature Alzheimers disease and aging, dysmorphic facial features Fibroblasts
Familial dysautonomia (FD) or Riley-Day syndrome Autosomal recessive disorder caused by a single mutation in exon 20 in I-K-B kinase complex associated protein (IKBKAP) gene Dysfunction of small fiber sensory neurons Fibroblasts
Childhood cerebral adreno leuko dystrophy (CCALD) Mutation in ABCD1 gene Adrenal cortex, nervous system and testes get affected, leading to rapid cerebral demyelination and adrenocortical atrophy. Skin fibroblasts
Rett's syndrome Classic form caused by loss-of-function mutation in Methyl-CpG-binding protein 2 (MECP2) gene on the X - chromosome, variants caused by mutations in FOXG1 or CDKL1 on chromosome 14 and X-chromosome, respectively Neurocognitive regression and autistic behavior Fibroblasts
Duchenne type muscular dystrophy (DMD) Biochemical and genetic defects in Dystrophin-glycoprotein complex Loss of walking ability Tail tip fibroblasts (mouse)
Alzheimer disease Duplication of amyloid β precursor protein (APP) Presence of neurofibrillary tangles and amyloid plaques in the brain Fibroblasts
LEOPARD syndrome Mutation in protein tyrosine phosphatase non-receptor type 11 (PTPN11) gene Increased failure of bone marrow, pulmonary fibrosis and cancer, oral leykoplakia, abnormal skin pigmentation and nail dystrophy Fibroblasts
α1-antitrypsin deficiency Mutation in α1-antitrypsin (A1AT) gene misfolded α1-antitrypsin gets aggregated in the endoplasmic reticulum Dermal fibroblasts
Parkinson's Disease (PD) Familial forms caused by α-synuclein, ubiquitin carboxy terminal hydroxylase L1, parkin, DJ-1, putative serine threonine kinase 1 and leucine rich repeat kinase 2 Loss in nigrostriated dopaminergic neurons in substantia nigra; presence of Lewy bodies Dermal fibroblasts of patient with idiopathic PD
Huntington disease (HD) CAG repeats (36 or more) in the first exon of htt gene gets expanded abnormally Degeneration in striatum and cerebral cortex Fibroblasts
ALS or Lou Gehrig's disease Autosomal dominant mutation in superoxide demutase (SOD1) Death of motor neurons of the motor cortex, brain stem and spinal cord Fibroblasts
Friedreich's ataxia (FRDA) GAA trinucleotide repeat in the first exon of the frataxin gene gets expanded Accumulation of mitochondrial iron, specific enzymes in mitochondria become defective, sensitivity to oxidative stress increases, cell death mediated by free radicals Fibroblasts
Lesch-Nhyan syndrome (carrier state) Deficiency of hypoxanthine guanine phospho ribosyl transferase (HPRT) Over-production of uric acid, low or medium level of mental retardation, megaloblastic anemia is frequent Dermal fibroblasts
Shwachman-Bodian-Diamond syndrome (SBDS) Mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene Exocrine pancreatic insufficiency, predisposition to leukemia, hematopoietic dysfunction Fibroblasts
Gaucher's type III Deficiency of acid hydrolase, β-glucocerebrosidase, or glucosylceramidase Myoclonal epilepsy, nerve deafness Fibroblasts
Generation of human prostate and urinary tract cells NA NA Human prostate and urinary tract cells
Adenosine deaminase deficiency-related severe combined immunodeficiency (ADA-SCID) Defects in Adenosine deaminase (AD) gene Impaired development and functioning of T, B, and NK cells; complete absence of humoral and cellular immunity; recurrence of infections. Bone Marrow derived mesenchymal cells
Type 1 diabetes mellitus (DM) Progressive β-cell destruction Long term micro and macro-vascular complications. Fibroblasts
Hemophilia A Deficiency of factor VIII Decreased protein production, inefficient clotting of blood Fibroblasts
Familial hypercholestrolaemia Mutation in low density lipoprotein receptor (LDLR) gene Deficiency of LDL-receptor mediated uptake of cholesterol Dermal fibroblasts
Spinal muscular atrophy Mutation in survival of motor neuron 1 (SMN1) gene Paralysis, muscle weakness and often death Fibroblasts
Hutchinson-Gilford progeria syndrome Point mutations in lamin A Premature atherosclerosis, vascular smooth muscles gets degraded Fibroblasts
Hutchinson-Gilford progeria syndrome Point mutations in lamin A Premature atherosclerosis, vascular smooth muscles gets degraded Fibroblasts

 


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