Disease Gene1 Animal model2  SC exhaustion3
 Inherited musculear dystrophies      
 Becker Muscular dystrophy  Dystrophin (Xp21) MDX mouse [16], mild phenotype  Indirect: Functional change: extensive activation; change in environment [35]
 Congenital Muscular disorders  Laminin A2/Merosin (6q22-6q23)e.g.  Laminin A2-deficient mouse [17]  
   Integrin A7 (12.q13.2)  Integrin A7-deficient mouse [18]  Indirect? Changes in environment (loss of integrin A7) [36]
  Fukutin (9q31-q33)  Fukutin chimeric mouse [19]  
   SEPN1 (1p36)  SEPN1-deficient mouse [20]  Direct: increased proliferation SCs [37]
 Duchenne Muscular Dystrophy  Dystrophin (Xp21) MDX mouse [16]; GRMD dogs [21]  Indirect: Functional change: extensive activation; change in environment [35]
 Emery-Dreifuss  Emerin (Xq28)  Emerin-deficient mouse [22]  Direct: Premature differentiation/cell cycle exit [38]
Lamin A/C (1q11-q21)   Lamin a-deficient mouse [23]
Facioscapulohumeral muscular dystrophy FSHMD1A, D4Z4 contraction (95%; 4q35) FRG-1 transgenic mouse [24] Direct and indirect: Increased apoptosis of myoblast/inhibition of differentiation [39,40]
Limb-Girdle Muscular Dystrophy Dysferlin (2p13.2) Dysferlin-deficient mouse [25] Indirect: Inhibition of myoblast fusion [41]
e.g. Alpha-sarcoglycan (17q12- 21.33) BIO 14.6 hamster [26]
POMT1 (9q34.1) and POMT2 (14q24.3) POMT1-deficiency in mouse is embryonic letal [27] Indirect; apoptosis in droshophila myoblasts [42]
Myotonic Dystrophy DMPK (DM1; 19q13.2-q13.3) DMPK-deficient mice [28] Indirect: myoblast dysfunction was reported [43]
ZNF9 (DM2; 3q21) ZNF9+/- mouse [29]
Oculopharyngeal muscular dystrophy PABPN1 (14q) Transgenic mouse expressing mutated PABPN1 [30] Direct and indirect: defects in myoblast differentiation and proliferation [44]
Metabolic Myopathies
Late-onset Pompe Diseaseacid alpha-glucosidase (17q25.2-q25.3) GAAKO mouse [31,32] Unknown: Increased SC activation reported [45]
Stress Urinary incontinence4 Ageing Models reviewed by [33] Indirect: Age-related loss of replicative potential, apoptosis) [46]
Chronic Obstructive Pulmonary Disease (COPD) alpha-1 antitrypsin (14q32.1) implicated Klotho knockout [34] Indirect: replicative senescence/reduction minimal telomere length [47]
1=Genes involved in disease; human gene locus between brackets, for some syndromes more genes were implicated and are indicated in a new row
2=Examples of animal models, mainly mouse, are listed. The selected models were reported to give a relevant phenotype, unless indicated otherwise. Reference between brackets
3=Exhaustion of SC pool may be direct (gene expressed and has critical function in SC) or indirect (gene not expressed in SC). Adapted from Morgan and ZammitExp. Cell. Res (2010) 316: 3100-3108; Relevant reference for SC exhaustion between brackets
Table 1: Muscular disorders with indication of SC exhaustion. The table list a number of muscular disorders with indications of satellite cell (SC) exhaustion. SC exhaustion may be direct if the gene is expressed in SC pool and affects the function of SCs. The effect of the gene defect may be indirect if the gene is normally not expressed by SCs. The disease causing genes and relevant animal models are listed.