«Our approach allowed us to grow human neurons in a dish that contained
the exact same mutation as the neurons in the brain of the patient,» explained first author Helen Fong, PhD, who is also a California Institute for Regenerative Medicine postdoctoral scholar.
«We could even compare T cells from the two compartments targeting
the exact same mutation and show that the TILs were more functional than the T cells we collected from the peripheral bloodstream,» says Harari.
The researchers found evidence that
the exact same mutation was occuring multiple times within the same patient.
Not exact matches
The
exact same dominant - negative
mutations are among the most commonly observed
mutations in human cancers.
«What remains unclear is how the
exact,
same mutation can give rise to different subtypes of tumor.»
The best known example is an imprinted locus in chromosome 15, where the
exact same genetic
mutations cause either the Prader - Willi syndrome if the
mutation comes from the mother, or the Angelman syndrome if it comes from the father — with essentially opposite sets of symptoms.
On the
exact same day in 1993, both Zoghbi and Orr independently discovered the
mutation responsible for SCA1.
The researchers also studied other chicken breeds where fibromelanosis occurs, including the Bohuslän - Dals svarthöna breed (Image 2) from Sweden, and they found that all fibromelanotic breeds carried the
exact same very unusual
mutation.
«Now we are closer to understanding why patients with the
exact same genetic
mutation in the cystic fibrosis gene have such widely varying manifestations of lung disease, and closer to finding new therapies.»
You might ask: if the mild form and the severe form of CEA / CH disease are caused by the
exact same genetic
mutation, why do some dogs have only mild disease while others have severe disease?