The reader is directed to some comprehensive surveys of the studies so far that point to some possible implications of this mutation in a variety of diseases (e.g., cancer, cardiovascular disease).
As functional consequences on RAS protein could be different of codons 12 and 13 mutations, the clinical implication of these mutations remained unclear until recently [ 6, 18].
A recent breakthrough in our understanding of the pathogenesis of NB is the identification of activating point mutations in the tyrosine kinase domain of the ALK gene as the main cause of familial NB, and implication of these mutations in a substantial fraction of sporadic NB tumors [ 59- 63].
As a matter of fact, the patient failed to respond to the TKI therapy, although functional studies are necessary to better clarify the patho-physiological implications of this particular mutation.
Finally, we discuss the potential functional implications of the mutation and suggest future prospects to evaluate the effect of the mutated CEP63 on cellular functions.
They reported mtDNA mutations in nine tumoral mtDNAs (one mutation per patient) and, in particular, inferred pathogenic implications of the mutation A15296G in leukemia.
One implication of this realization is that recent mutation may have a greater influence on disease susceptibility or protection than is conferred by variations that arose in distant ancestors.
