1. Clasificación por tamaño de unidad
- STR (microsatélites): 1-6 pb → grueso de patología neurológica
- VNTR (sentido amplio): número variable de copias, unidad mayor
- Minisatélites clásicos: 10-60 pb (INS, MUC1)
- Macrosatélites: miles de pb — mismo principio (nº variable de copias), unidad muchísimo mayor (FSHD/D4Z4)
2. Por qué son inestables (mecanismo común)
- Deslizamiento de la ADN polimerasa durante replicación
- Hebra naciente se disocia y reasocia en registro desplazado → bucle
- Bucle en hebra naciente → expansión
- Bucle en hebra molde → contracción
- A mayor longitud previa, mayor probabilidad de bucle → inestabilidad no lineal tras umbral crítico (normal → premutación → mutación completa)
Consecuencia clínica: anticipación genética = manifestación fenotípica de esta inestabilidad meiótica creciente (sesgo paterno o materno según la enfermedad).
3. Tres mecanismos según localización de la repetición (bloque STR)
A) Exón codificante, tripletes (CAG=poliQ)
- Proteína anómala con tracto de poliglutamina
- Mal plegamiento → agregación intranuclear
- Ganancia de función tóxica, dominante
- Ej.: Huntington, SCAs, Kennedy (ligada a X)
B) Región no codificante (UTR, intrón), gran expansión
- Silenciamiento epigenético → hipermetilación → pérdida de función (X frágil, Friedreich)
- Toxicidad de ARN → secuestro de proteínas de splicing por ARN mensajero con repetición expandida (miotónica, C9orf72)
Enfermedades neurológicas causadas por STR.
| Abbreviated phenotype (MIM number) | Gene | Mode of inheritance | Repeat Motif | Location on Gene | Pathogenic repeat numbera | Chromosome | Coordinates (hg38) | Clinical phenotype | References | |
|---|---|---|---|---|---|---|---|---|---|---|
| C9-FTD C9-ALS (#10550) | C9orf72 | AD | GGGGCC | 5’ Region | 24–4000 | chr9 | 27573485 | 27573546 | Frontotemporal dementia, amyotrophic lateral sclerosis | [32, 47, 65] |
| CANVAS (#614575) | RFC1 | AR | (AAGGG)400–2000 (ACAGG)exp AAAAG (normal) | Intron 2 | 400–2000 | chr4 | 39348425 | 39348483 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | [11, 28, 138] |
| DM1 (#160900) | DMPK | AD | CTG (Interruptions: CCG) | 3’ Region | 50–10,000 | chr19 | 45770205 | 45770266 | Myotonic dystrophy 1 | [60, 176] |
| DM2 (#602668) | CNBP (ZNF9) | AD | CCTG | Intron 1 | 50–11,000 | chr3 | 129172577 | 129172656 | Myotonic dystrophy 2 | [176] |
| DRPLA (#125370) | ATN1 | AD | CAG | Exon 5 | 49–93 | chr12 | 6936717 | 6936775 | Dentatorubral-pallidoluysian atrophy | [78] |
| EIEE1/XLID (#308350) (#300419) (#300215) | ARX | XL | GCC | Exon 2 | 17–27 | chrX | 25013654 | 25013697 | Clinical spectrum of disorders including developmental and epileptic encephalopathy 1, hydranencephaly with abnormal genitalia, X-linked lissencephaly 2 and X-linked mental retardation 29 | [73, 150] |
| FAME1 (#601068) | SAMD12 | AD | TTTCA within TTTTA repeat region | Intron 4 | 105–3680 | chr8 | 118366813 | 118366918 | Familial adult myoclonic epilepsy 1 | [22, 68] |
| FAME2 (#607876) | STARD7 | AD | ATTTC within ATTTT repeat region | Intron 1 | 150–460 | chr2 | 96197067 | 96197124 | Familial adult myoclonic epilepsy 2 | [27] |
| FAME3 (#613608) | MARCHF6 | AD | TTTCA within TTTTA repeat region | Intron 1 | 700–1035 | chr5 | 10356339 | 10356411 | Familial adult myoclonic epilepsy 3 | [40] |
| FAME6 (#618074) | TNRC6A | AD | TTTCA within TTTTA repeat region | Intron 1 | ? (only 1 family) | chr16 | 24613439 | 24613532 | Familial adult myoclonic epilepsy 6 | [68] |
| FAME7 (#618075) | RAPGEF2 | AD | TTTCA within TTTTA repeat region | Intron 14 | ? (only 1 family) | chr4 | 159342527 | 159342618 | Familial adult myoclonic epilepsy 7 | [68] |
| FRAXE (#309548) | FMR2 (AFF2) | XLR | CCG | 5’ Region | > 200 | chrX | 148500605 | 148500753 | Mental retardation, X-linked, FRAXE type | [53] |
| FRDA (#229300) | FXN | AR | GAA | Intron 1 | 66–1300 | chr9 | 69037275 | 69037314 | Friedreich ataxia | [5, 19, 162] |
| FXS (#300624) FXTAS (#300623) | FMR1 | XL | CGG | 5’ Region | 200–3000 55–200 | chrX | 147911979 | 147912111 | Fragile X syndrome Fragile X tremor/ataxia syndrome, premature ovarian failure 1 | [162] [56] |
| HD (#143100) | HTT | AD | CAG (Interruptions: CAA) | Exon 1 | 36–250 | chr4 | 3074876 | 3074941 | Huntington disease | [96, 101] |
| HDL1 (#603218) | PRNP | AD | 24-base octapeptide PHGGGWGQ | Exon 2 | 8–14 | chr20 | 4699379 | 4699380 | Huntington disease-like 1 | [108] |
| HDL2 (#606438) | JPH3 | AD | CTG | Exon 2A | 40–59 | chr16 | 87604283 | 87604329 | Huntington disease-like 2 | [62] |
| HMN | VWA1 | AR | GGCGCGGAGC | Exon 1 | 3 | chr1 | 1435799 | 1435820 | Hereditary axonal motor neuropathy | [121] |
| NIID (#603472) | NOTCH2NLC | AD | CGG | 5′ Region | 66–517 | chr1 | 149390803 | 149390842 | Neuronal intranuclear inclusion disease | [55, 118, 146] |
| OPDM1 (#164310) | LRP12 | AD | CGG | 5′ Region | 90–130 | chr8 | 104588965 | 104588999 | Oculopharyngodistal myopathy | [69] |
| OPDM2 (#618940) | GIPC1 | AD | CGG | 5’ Region | 70–164 | chr19 | 14496029 | 14496104 | Oculopharyngodistal myopathy | [172] |
| OPMD (#164300) | PABPN1 | AD | GCG | Exon 1 | 7–18 | chr14 | 23321472 | 23321511 | Oculopharyngeal muscular dystrophy | [15, 129] |
| OPML1 (#618637) | NUTM2B-AS1 | AD | CGG | 5′ Region | 16–160 | chr10 | 79826364 | 79826403 | Oculopharyngeal myopathy with leukoencephalopathy 1 | [69] |
| SBMA (#313200) | AR | XLR | CAG | Exon 1 | 38–68 | chrX | 67545317 | 67545419 | Spinal and bulbar muscular atrophy of Kennedy (Kennedy’s disease) | [44, 82, 147] |
| SCA1 (#164400) | ATXN1 | AD | CAG (Interruptions: CAT) | Exon 8 | 39–91 | chr6 | 16327636 | 16327723 | Spinocerebellar ataxia 1 | [120, 141] |
| SCA2 (#183090) | ATXN2 | AD | CAG (Interruptions: CAA, CGG, CGC) | Exon 1 | 33–200 (29–32 increased ALS risk) | chr12 | 111598950 | 111599019 | Spinocerebellar ataxia 2 | [18, 133, 141, 148] |
| SCA3 (#109150) | ATXN3 | AD | CAG | Exon 10 | 53–87 | chr14 | 92071011 | 92071052 | Spinocerebellar ataxia 3 | [74] |
| SCA6 (183086) | CACNA1A | AD | CAG | Exon 47 | 19–33 | chr19 | 13207858 | 13207897 | Spinocerebellar ataxia 6 | [141, 181] |
| SCA7 (#164500) | ATXN7 | AD | CAG | Exon 1 | 34–460 | chr3 | 63912685 | 63912716 | Spinocerebellar ataxia 7 | [18, 30] |
| SCA8 (#608768) | ATXN8 | AD | CAG/TAG | 3’ UTR | 74–1300 | chr13 | 70139383 | 70139428 | Spinocerebellar ataxia 8 | [79, 141, 155] |
| SCA10 (#603516) | ATXN10 | AD | ATTCT (Interruptions: ATCCT) | Intron 9 | 280–4500 | chr22 | 45795355 | 45795424 | Spinocerebellar ataxia 10 | [88, 100, 141] |
| SCA12 (#604326) | PPP2R2B | AD | CAG | 5’ Region | 51–78 | chr5 | 146878729 | 146878758 | Spinocerebellar ataxia 12 | [63, 94, 141] |
| SCA17 (#607136) | TBP | AD | CAG (Interruptions: CAT, CAA) | Exon 3 | 43–66 | chr6 | 170561907 | 170562017 | Spinocerebellar ataxia 17, Huntington disease-like 4 | [97, 115, 141] |
| SCA31 (#117210) | BEAN1 | AD | TGGAA within TAAAA and TAGAA repeat region | Intron/ Intergenic region | 500–760 (> 110 TGGAA repeats) | chr16 | 66495475 | 66495509 | Spinocerebellar ataxia 31 | [134] |
| SCA36 (#614153) | NOP56 | AD | GGCCTG | Intron 1 | 650–2500 | chr20 | 2652733 | 2652775 | Spinocerebellar ataxia 36 | [77] |
| SCA37 (#615945) | DAB1 | AD | ATTTC within (ATTTT)7–400 repeat region | 5’ Region | 31–75 | chr1 | 57367044 | 57367125 | Spinocerebellar ataxia 37 | [139] |
| ULD (#254800) | CSTB | AR | CCCCGCCCCGCG | Upstream 5’ UTR | 30–125 | chr21 | 43776444 | 43776479 | Progressive myoclonic epilepsy 1A (Unverricht and Lundborg disease) | [87, 91] |
aThese ranges vary between studies and often the upper limit is unknown. It is important to note that these are only potentially pathogenic. There is a small (< 1%) subsection of the healthy control population who have expanded alleles with no clinical manifestations. Similarly, there are alleles lower than the given range who may have intermediate alleles and premutation syndromes
Enfermedades congénitas y del desarrollo causadas por STR.
| Phenotype (OMIM #) | Gene | Motif | Pathogenic repeat number | Location | (hg38) | References | ||
|---|---|---|---|---|---|---|---|---|
| BPES (#110100) | FOXL2 | GCG | 22–24 | Exon | chr3 | 138946022 | 138946062 | [116] |
| CCHS (#209880) | PHOX2B | GCG | 24–33 | Exon | chr4 | 41745976 | 41746022 | [7] |
| DBQD2 (#615777) | XYLT1 | GGC | 100–800 | 5’ Region | chr16 | 17470869 | 17470967 | [86] |
| FECD3 (#613267) | TCF4 | TGC | > 50 | Intron | chr18a | 55222184a | 55635956a | [167] |
| GDPAG (#618412) | GLS | GCA | > 300 | 5’ Region | chr2 | 190880873 | 190880920 | [159] |
| HFG (#140000) | HOXA13 | GCG | 24–26 | Exon | chr7 | 27199827 | 27199967 | [50] |
| HPE5 (#609637) | ZIC2 | GCG | 25 | Exon | chr13 | 99985449 | 99985494 | [17] |
| HSAN8 (#616488) | PRDM12 | GCG | 18–19 | Exon | chr9 | 130681606 | 130681641 | [23] |
| SPD1 (#186000) | HOXD13 | GCG | 22–29 | Exon | chr2 | 176093058 | 176093099 | [2] |
| XLMR (#300123) | SOX3 | GCG | 15–26 | Exon | chr3 | 181712415 | 181712456 | [89] |
aLocation of entire gene listed
4. Bloque VNTR (sentido amplio)
Minisatélites clásicos
- Variación de número de copias sin umbral patogénico brusco
- Modulan riesgo poligénico (INS → diabetes tipo 1) o causan enfermedad estructural (MUC1 → ADTKD)
- Base histórica del «DNA fingerprinting» forense
Macrosatélites
— FSHD como caso paradigmático
- D4Z4 (subtelómero 4q35): unidad de 3.3 kb
- Normal: 11-100 copias / Patológico: ≤10 copias (FSHD1) — contracción, no expansión
- Contracción abre cromatina → desrepresión de DUX4 (normalmente silenciado en músculo adulto) → toxicidad
- Requiere haplotipo permisivo 4qA (misma contracción en 4qB no causa enfermedad)
- FSHD2: array normal, pero mutación en SMCHD1 → mismo resultado (desrepresión de DUX4) por vía trans, no por contracción cis
- No sigue anticipación genética clásica (mecanismo epigenético, no carrera de repeticiones)
- Sí, hay un grupo pequeño pero importante de enfermedades que comparten con FSHD el mecanismo «atípico» (repetición grande, no microsatélite clásico, y/o mecanismo epigenético en vez de toxicidad directa). Las más relevantes para tu esquema:
—- Síndrome ICF (Inmunodeficiencia, Inestabilidad Centromérica, anomalías Faciales)
- Afecta repeticiones satélite 2 y 3 (secuencias pericentroméricas, no D4Z4, pero mismo principio de macrosatélite/heterocromatina repetitiva)
- Mecanismo: mutaciones en DNMT3B (o ZBTB24, CDCA7, HELLS) → hipometilación de estas regiones repetidas → descondensación pericentromérica → inestabilidad cromosómica
- Es prácticamente el equivalente autosómico recesivo del mecanismo de FSHD2: falla la maquinaria que mantiene silenciada la heterocromatina repetitiva, en vez de fallar la repetición misma
—- Epilepsia mioclónica progresiva tipo 1 (Unverricht-Lundborg).
- Gen CSTB (cistatina B)
- Repetición dodecámera (12 pb) en el promotor — tamaño frontera entre microsatélite y minisatélite, otro caso que no encaja limpiamente en STR clásico
- Mecanismo: expansión (a diferencia de FSHD) pero el resultado es pérdida de función por reducción transcripcional, no toxicidad de proteína ni de ARN — la expansión en el promotor simplemente dificulta la transcripción del gen
- Útil como contraste: expansión que causa pérdida de función pura, sin ganancia tóxica
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