Kathleen Folbigg chhuah zalen a nih theih nan Science

Kum sawmhnih dawn chu Kathleen Folbigg chu Australian Lung Inah a fate pali tihluma puhin a tang a. Mahse, tunah chuan science thiamna avangin chhuah zalenin a awm ta.
June 5 khan ngaihdam nia chhuah zalen nghal niin a chungthu chhui chian a nih hnuah Folbigg chu amah puhna tinah thiam chang tih a ni.
A tannaa mawhphurtu ber ni ta zawk chu ”gene mutation’ niin a chungthu ngaihtuah a nih lai khan a genetic evidence a la awm tlat si lo a ni.

Tu nge Kathleen Folbigg?
Kum 55-a upa Folbigg chu ‘Australiaa hmeichhe serial killer rapthlak ber’ tihialin a fate pali Caleb (19 days), Patrick (8 months), Sarah (10 months) leh Laura (18 months) te kum sawm chhung inkar vela an thih vek hnua sawi a ni a.
A chungthu ngaihtuah a nih laiin engmah a fate taksaah emaw kutthlakna hnuhma a awm miah lo chungin leh hliam pawh a awm lo chungin engtin emaw tihluma puh a ni tho. A chungthu ngaihtuah chu a diary behchhana kalpui vek niin chutah chuan nu niha harsatna a tawh dan te a ziak lang thin a. A diary a thuziah pakhat ‘anmahni laka ka inthlahrunna chuan min chenchilh reng a ni’ tiin a sawi.
Kum 2003 khan thiamloh chantir niin tualthah thubuai pathumah leh manslaughter tiin thiam loh chantir a ni ta a ni.

A hnu zel thil thleng?
Carola Vinuesa, tuna London khawpuia Francis Crick Institute a geneticist ni mek chuan kum 2018 khan Folbigg chungchang hi a hre ve chauh a. A hnuah Folbigg leh a fate genome sequencing chu kalpuiiin a tum ber chu a fate mak taka an thihchhanah genetic fel lo a ni thei em tih finfiah a ni.
Kum 2019 khan Dr. Vinuesa leh a team te chuan Folbigg leh a fate DNA sample chu an lakah a fanu pahnihte chuan gene mutation danglam tak CALM2 protein chikhat calmodulin tia sawi lung tana pawimawh tak siamtu inthlak danglam an nei tih an hre ta a ni.
Khatih lai khan scientists te chuan chu thil inthlak danglam chuan pawimawhna emaw hlauhawmna a nei em tih an la hrefiah mai thei lo va. Folbigg lawyer-in ngenna a siam pawh Researcher te thil hmuhchhuah chu a la chiang tawk lo tia hnawl sak a ni.
Kum 2020 khan Dr. Vinuesa leh a team te chuan Folbigg laka thil thleng ang chi hrang hrang lakhawmin chungte chu an tichhuak a. A hnuah he paper author te leh scientists dang dangte chuan thukhat vuain inquiry ti tha leh turin petition an siam ta a ni. Australian Academy of Science pawhin petition hi thlawpin kum 2022 khan inquiry tihthat leh tur tih a ni ta a ni.

CALM genes
CALM genes pathum (1-3) protein siam danglam thei calmodulin an tih chu a awm a. He protein hi multifunctional niin cell-a calcium te lakhawm leh kal kual thei a ni. Heart function atana pawimawh em em niin cardiac muscle cell a calcium channel hawnga inkhar leh tur vengtu niin chu chu lung venna atana pawimawh em em a ni a. Mihring dam khawchhuah nana protein pawimawh leh tihmakmawh a ni.
He protein hian vertebrates tinah amino acid sequence te chet vel dan bakah humhimin gene insiam danglam thei awm hlauhawmna te pawh hrilh lawk theitu a ni a.
Genome sequencing lamah hmasawnna nasa tak a awm hnuah scientists te chuan CALM genes mutation chu an hmufiah ta a ni. CALM gene mutation hi thil thleng khat lutuk a ni thung a. A tlangpuiin kum naupangah lang chhuakin kum 4 velah te cardiac event a awm thin an ti a. He gene neitu 27% vel te chu sudden cardiac arrest vangin an thi tiin kum 2019 a naupang 74 zirchianna neihah chuan tarlan a ni.
He gene mutation pathum avanga medical lama harsatna a siam theih te hi Calmodlunipathy tia sawi a ni.

Gene mutation-in Folbigg fate a khawih dan?
Folbigg fate thih dan report a enfiah hnuah Dr. Vinuesa chuan natna a rukin an nei ang, a ti a.
An family gene a enfiah hnuah a fate pahnih chuan CALM2 gene hi an nei tih a finfiah ta a ni. Hei vang hian mutated gene in protein a pekchhuah chuan cardiac muscle cell ah calcium che vel a tibuai a ti ta a ni.
Folbigg fapa bikah chuan CALM gene an hmu ve lo va. Mahse, mutated gene bassoon presynaptic cytomatrix (BSN) protein keng tel a nei an ti thung a. BSN hi scaffolding protein (protein chikhat moclecules tam tak te awmze nei taka remkhawmtu) brain cell a awm a ni a. Cell structure felfai taka siama a bik taka brain cell atanga neurotransmiter pechhuaktu cystoskeleton awmze nei tak siamtu a ni.
Research chaichima neihah he gene mutation neitu zahve lawih te chu an pian atanga thlaruk chhung lekin kaih avangin an thi vek tih an finfiah a ni.

Science hnathawh
Folbigg chuan tihsual a nei miah lo anga a lan hnuah scientific evidence chu court-ah putluh ngai a ni a. Australian Academy of Science te chuan researcher 30 ngawt chhawp chhuakin an zinga a zahve vel te chuan finfiahna an pe thei a ni.
Expert withness pakhat Michael Toft Overgaard, Aaalborg University, Denmark a protein scientists chuan, “He case-ah hian science chuan ngaihven a hlawh a ni,” tiin a sawi.
Inquity neihnaah Dr. Overgaard leh a thawhpui te chu lawyers te hnenah sawifiahna hun pek an ni a. |um khat phei chu gene mutation in calmodulin function a khawih danglam theih nan darkar nga lawih a sawi a. A changin team ten evidence an pek theih nan inquiry te pawh tihtawp lailawk ten a awm bawk.
Expert witness dang Peter Scwartz, Italian Auxological Institute, Milan calmodulin mutation avanga sudeen death lama leading expert pawhin Australian justice system thudik hailan duha khawvel hmun tina mithiam a rawn chu fakawm a tih thu a sawi bawk.

Tunah?
Folbigg chu chhuah zalen niin Governor of New South Wales chuan a ngaidam a. Mahse, amah hremna chu Court of Criminal Appeal in a hnawl nghal tihna a ni lo. Dik lo taka hrem tia pawm a nih chuan dik lo taka hrem a nih avangin Australian sorkar chu a khing thei dawn thung a ni.