Health

Scientists unravel mystery of rare neurodevelopmental disorder, provide definitive diagnoses to 21 families worldwide

KCNK9 chronic pain. IN KCNK9 codeing exons shows all the differences by the protein change predicted using ProteinPaint (St. Jude Children’s Hospital). The number in the circle represents the number of families compared with the variance, no number = family 1. The variations previously printed are gray. B TASKAR 3 protein topology schematic shows the location of the differences. C Preserve the effects of diversity. The bars on the top line indicate position differences. D Front pictures and profiles of different individuals KCNK9. Age of photography is: P2.1: 1y 6 m, P3.1: 9y, P6.1: 10y 3 m, P7.1: 9y, P8.1: 1y 5 m, P9.1: 12y- 18y, P9.2: 12y-18y, P12.1: 2y 2 m; P13.1: 6y 1 m, P15.1: 58y, P16.1: 17y, P18.1 (photo update, Pt. 1, Graham et al. 2016): 6y, P23.1: 1y 3 m, P24. 1: left 3 m, right 5y, P27.1: 6y 1 m, P27.2: 8y1m, P27.3: 28y, P29.1: 8y 1 m. y = age; m = months. E Screening using the Face2Gene Search application (FDNA Inc. Boston, MA) for individuals with KCNK9 (Previous pictures P3.1, P6.1, P7.1), P8.1, P9.1, P12.1, P13.1, P16.1, P18.1, P19.1 *, P20.1 * , P21.1 *, 23.1, P24.1 (3 m picture), 25.1 *, 27.1, and 29.1 compared to age, sex, and ethnicity respectively. Binary comparison data (AUC = area under bending, ROC = receiver performance characteristics) show a significant difference between the two groups (P)

People have KCNK9 printing diseases. IN KCNK9 codeing exons shows all the differences by the protein change predicted using ProteinPaint (St. Jude Children’s Research Hospital). The number in the circle represents the number of families compared with the variance, no number = family 1. The variations previously printed are gray. B The TASK3 protein structure indicates the location of the differences. C Preserve the remnants of the differences affected. The bars on the top line indicate position differences. D Front photos and profiles of people with KCNK9 variants. Age of photography is: P2.1: 1y 6 m, P3.1: 9y, P6.1: 10y 3 m, P7.1: 9y, P8.1: 1y 5 m, P9.1: 12y- 18y, P9.2: 12y-18y, P12.1: 2y 2 m; P13.1: 6y 1 m, P15.1: 58y, P16.1: 17y, P18.1 (photo update, Pt. 1, Graham et al. 2016): 6y, P23.1: 1y 3 m, P24. 1: left 3 m, right 5y, P27.1: 6y 1 m, P27.2: 8y1m, P27.3: 28y, P29.1: 8y 1 m. y = age; m = months. E Screening using the Face2Gene Search application (FDNA Inc. Boston, MA) for people with KCNK9 Headache (previous pictures P3.1, P6.1, P7.1, P8.1, P9.1, P12.1, P13.1, P16.1, P18.1, P19.1 *, P20.1 ) *, P21.1 *, 23.1, P24.1 (Fig. 3 m), 25.1 *, 27.1, and 29.1 compared with age, sex, and ethnicity. The shape of the receiver function) shows the main difference between the two groups (P <0.05). * photos published. Credit: Biology (2022). DOI: 10.1186 / s13073-022-01064-4

A team of scientists led by Mayo Clinic’s Center for Individualized Medicine has identified 15 additional mutations in the KCNK9 gene that cause progressive neurodevelopment. Symptoms range from speech impairment to physical disabilities, mental retardation and facial expressions.

“Once again, only one genetic change In KCNK9gene it is known to cause an illness, called KCNK9 imprinting syndrome. Our study illustrates 15 new genetic mutations, ”said Margot Cousin, Ph.D., a genomics researcher at the Mayo Clinic for One Person Medicine and author of the study.

Through a new study, published in Biology, 21 families of different genders in KCNK9 received a definitive diagnosis. While there is no specific treatment for KCNK9 imprinting syndrome, Drs. Cousin said her team’s research could lead to further therapeutic progress.

“We can now give more patients a response to their root cause, which is the most important first step in finding a cure,” said Dr. Cousin.

KCNK9 gene regulates the production of a unique transport protein called TASK3, which regulates the activity of neurons in the brain. KCNK9 hepatitis B occurs when there is a change in the cell copy inherited from the mother. The mood from the father is always quiet.

Variation in the KCNK9 gene alters the TASK3 protein channel, which disrupts normal neuron growth. When the TASK3 protein channel is working properly, it maintains the cell’s ability to produce electrical signals and regulate cell activity.

For the study, Drs. Cousin and her team studied genetic variations and symptoms, including specific facial features, of 47 individuals and mutations in KCNK9 associated with KCNK9 imprinting syndrome. Study participants were recruited from hospitals or clinics from the US, UK, Germany, Italy, France, the Netherlands, Canada and Singapore.

“Then we determined the effect of genetic variation on proteins produced by the KCNK9 gene, the TASK3 potassium channel. To do this, we used a computer and cell-built methods for measure changes in how the TASK3 channel works properly. the result of each variation, “Dr. Cousin appeared. “We have been able to show that these genetic mutations have different effects on the current in the TASK3 channel, but mostly change the way the body’s protein channels are processed.”

Dr. Cousin said go ahead molecular structure and the ability to interpret the vast array of data generated with multiple omic technologies enhances the investigation of pathogenic pathogens. Omics technology includes detection organic matter, Genomics; manzo RNA, transcriptomics; sunadarai, sunadarai; metabolites, and metabolites.

“Recently, the identification of genetic diversity has been hailed as an important factor,” said Dr. Cousin. “We can now illuminate a variety of genetic changes in the cell to understand the exact mechanisms of the disease.”

Dr. Cousin emphasizes that with genomic technology becoming more widely used in clinical care, identifying genetic diversity is not the norm.

“The remaining challenge is to identify people with similar genetic differences and symptoms and then to resolve the mechanism by which these genetic mutations cause disease with a variety of expertise,” said Dr. Cousin.


Tactical biological changes provide new indications for epilepsy


Learn more:
Margot A. Cousin et al, Loss of function of the TASK3 channel and its mechanisms by differentiating KCNK9 imprinting pain, Biology (2022). DOI: 10.1186 / s13073-022-01064-4

hint: Scientists uncover the secrets of neurodevelopmental dementia, providing specific research to 21 families worldwide (2022, June 21) restored 21 June 2022 from https://medicalxpress.com/news/2022-06 -scientists-unravel-mystery-rare-neurodevelopmental .html

This document is copyrighted. Apart from any genuine transaction for research or investigation purposes, any part may not be reproduced without our written permission. Content is provided for informational purposes only.

Scientists unravel mystery of rare neurodevelopmental disorder, provide definitive diagnoses to 21 families worldwide Source link Scientists unravel mystery of rare neurodevelopmental disorder, provide definitive diagnoses to 21 families worldwide

Related Articles

Back to top button