Leeg tsis muaj zog yuav ua los ntawm ib tug tsis tshua muaj noob kab mob hu ua myofibrillar myopathy. Gonzalo Blanco pab (team) pom tus qauv nas uas muaj tus kab mob no thiab xav paub ua lwm tus cov leeg heev tsis muaj zog. Lawv tsom tau los nrhiav tej tshuaj rua lub hom phaj los txhais lus rau kev tshawb fawb soj ntsuam muaj menyuam mus saib thiab soj ntsuam.
Ua ntej kuv ua koom tes, tus kab mob no muaj lawm mapped mus ib thaj av loj uas muaj ib tug chromosome thiab Dr Blanco lub pab (team) tau npaj tau siv pa positional cloning txoj kev yuav nrhiav txoj kev hloov. Kuv npaj siab tias ib tug mus kom ze sai yuav siv tau cov cim ntxiv mus sequencing targeted ntawm noob rau hauv thaj av ntawd. Kuv tsim cov txheej probes yuav enrich DNA tawg tsam hais thiab kuv ua hauj lwm nrog rau ib bioinformatician, Dr. Michelle Simon, yuav tsim ib tug pipeline software nrhiav thiab characterise change.
Qhov kawg ntawm qhov kev tsim, the pipeline was used to identify mutations in the muscle weakness mutants and predict that they altered the coding sequences of two genes; Myh4 thiab Pmp22. Ob txog hlua ntawm cov tim khawv pom tias tias txoj kev hloov hauv Myh4, uas lis dej num kom muaj protein ntau tej nqaij myosin, yog yuav muaj feem ua kom muaj tus tsis muaj zog. Firstly, lug txhawb peb cov miv nyob nas teev tsuas qhov myosin hloov tseem muaj txoj kev zoo losis phem thiab secondly, txawv txav protein ntau aggregates ntawm cov nas muaj nyob lawm cov myosin loj loj.
Zaum ntawm lub MRC Mammalian noob caj noob ces tsev tau siv cov qub mus kom ze, that Michelle Simon and I pioneered, to find mutations in other disease models.
Publication in Human Molecular Genetics
Testimonial from Dr. Gonzalo Blanco
