Table 1.
Defects and associated diseases of myosin II motor proteins and their regulators.
| Gene | Mutation/Defect | Disease | Common symptoms |
|---|---|---|---|
| MYH9 | R702C/H R1165C/L and many* | MYH9RD (May-Hegglin anomaly, Sebastian platelet syndrome, Fetchner, Bernard-Soulier syndrome, Alport syndrome, Epstein syndrome) | Thrombocytopenia, enlarged platelets, deafness, cataract, nephritis, and Döhle-like inclusions. |
| MYH9-Alk chimeric Transcript** | Anaplastic large cell lymphoma | Blood cancer, painless swelling of lymph nodes, and rapid weight loss. | |
| Overexpression$ | Cancer metastasis | – | |
| MYH10 | E908X (de novo) | Microcephaly, hydrocephalus, cerebral and cerebellar atrophy | Small head, dwarfism or short stature, delayed motor, and speech functions. |
| Downregulation | Megakaryopoiesis, myocardial infarction, demyelination, Batten disease | Chest pain, dizziness, nausea, ocular paralysis, speech problem, and impaired vision. | |
| MYH14 | S7X, S120L, G376C, R726S, L976F | Hereditary blindness, hearing impairment (DFNA4), peripheral neuropathy, myopathy, hoarseness | Deafness, loss of vision, burning pain, numbness, changes in skin, hair or nail, dizziness, and paralysis. |
| Aberrant splicing | Myotonic dystrophy type 1 (DM1) or Steinert disease | Weakness. | |
| ROCK | Overexpression$ | Cancer metastasis | – |
| Mts1 | Overexpression$ | Cancer metastasis | – |
| Dmlc2# | Δ2–46, S66A, S67A | Impairment of courtship | Inability of a fly to sing a courtship song. |
| MYLK | G601E | Cancer | – |
| P147S | Asthma | – | |
| SNP | Asthma, acute lung injury, sepsis | – | |
| CLN3@ | L101P, L170P, Y199X, Q295K | Seizures, dementia, and psychomotor disturbances | Loss of vision and memory, mood swings, poor judgment. |
| TRPM6 | R56X, S141L, R484X, S590X, Δ427–429, Δ736–737, Δ1260–1280 | Seizures, Hypocalcemia, tetany, hypomagnesemia | Abnormal eye movement, convulsions, fatigue, numbness, anxiety, depression, dementia. |
| LLgl | Δ17p11.2^ | Smith-Magenis Syndrome | Intellectual disability, sleep disturbances, behavior problems, defects in many body parts. |
*
Refer Burt et al. (2008),
**
Found in the lymphocytes of lymphoma patients,
$
Implicated,
#
Encodes RLC in Drosophila,
@
Interacts directly with myosin IIB, Δ deletion, SNP, single nucleotide polymorphism;
∧
LLgl, located region in chromosome 17.