Featured Research

from universities, journals, and other organizations

Investigating devastating childhood diseases just got easier

Date:
May 2, 2013
Source:
BioMed Central Limited
Summary:
Induced pluripotent stem cells (iPScs) from the skin of patients with Dravet syndrome (DS) show Dravet-like functional impairment when they are converted into neurons, finds new research. This method provides a non-invasive way to investigate diseases which affect the nervous system of humans.

Neural cells derived from iPSCs.
Credit: Image courtesy of BioMed Central Limited

Induced pluripotent stem cells (iPScs) from the skin of patients with Dravet syndrome (DS) show Dravet-like functional impairment when they are converted into neurons, finds research in BioMed Central's open access journal Molecular Brain. This method provides a non-invasive way to investigate diseases which affect the nervous system of humans.

Research into genetic diseases like DS is hampered by its rareness. It affects 1 in 30,000 children and is first noticed within the first year or two or life. Seizures are hard to control and as the child develops other neurological problems emerge meaning that most will require help and support throughout life.

70-80% of people with DS have a mutation in their SCN1A gene which disrupts normal function of voltage-gated sodium channels in the brain. This mutation is normally not inherited from either parent but is unique to the affected child. Research models of DS usually involve mice which have been genetically altered to so that either this channel is mutated or deleted. But differences between the brains of humans and mice means that mice are not necessarily the best model for this rare disease.

Work describing how, under certain experimental conditions, tissue cells can be reverted to stem cells was honoured in the 2012 Nobel prize for Physiology or Medicine. In this research, a team from Japan developed (iPSCs) from skin cells taken from an adult with DS who had a mutation in SCN1A. These cells were then differentiated into neurons allowing researchers to look at the effect of DS directly in human cells.

Explaining their results Prof Shinichi Hirose, from Fukuoka University, said, "From research with mice we believed that SCN1A mutations affect GABAergic neurons in the forebrain from signalling properly. From the human neurons we also found that GABAergic neurons were affected by DS, especially during intense stimulation. These patient-derived cells provide an unparalleled insight into the mechanism behind DS and a unique platform for drug development."


Story Source:

The above story is based on materials provided by BioMed Central Limited. Note: Materials may be edited for content and length.


Journal Reference:

  1. Norimichi Higurashi, Taku Uchida, Lossin Christoph, Yoshio Misumi, Yohei Okada, Wado Akamatsu, Yoichi Imaizumi, Bo Zhang, Kazuki Nabeshima, Masayuki X Mori, Shutaro Katsurabayashi, Yukiyoshi Shirasaka, Hideyuki Okano, Shinichi Hirose. A human Dravet syndrome model from patient induced pluripotent stem cells. Molecular Brain, 2013; 6 (1): 19 DOI: 10.1186/1756-6606-6-19

Cite This Page:

BioMed Central Limited. "Investigating devastating childhood diseases just got easier." ScienceDaily. ScienceDaily, 2 May 2013. <www.sciencedaily.com/releases/2013/05/130502081853.htm>.
BioMed Central Limited. (2013, May 2). Investigating devastating childhood diseases just got easier. ScienceDaily. Retrieved July 23, 2014 from www.sciencedaily.com/releases/2013/05/130502081853.htm
BioMed Central Limited. "Investigating devastating childhood diseases just got easier." ScienceDaily. www.sciencedaily.com/releases/2013/05/130502081853.htm (accessed July 23, 2014).

Share This




More Health & Medicine News

Wednesday, July 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Idaho Boy Helps Brother With Disabilities Complete Triathlon

Idaho Boy Helps Brother With Disabilities Complete Triathlon

Newsy (July 23, 2014) An 8-year-old boy helped his younger brother, who has a rare genetic condition that's confined him to a wheelchair, finish a triathlon. Video provided by Newsy
Powered by NewsLook.com
Stone Fruit Listeria Scare Causes Sweeping Recall

Stone Fruit Listeria Scare Causes Sweeping Recall

Newsy (July 22, 2014) The Wawona Packing Company has issued a voluntary recall on the stone fruit it distributes due to a possible Listeria outbreak. Video provided by Newsy
Powered by NewsLook.com
Huge Schizophrenia Study Finds Dozens Of New Genetic Causes

Huge Schizophrenia Study Finds Dozens Of New Genetic Causes

Newsy (July 22, 2014) The 83 new genetic markers could open dozens of new avenues for schizophrenia treatment research. Video provided by Newsy
Powered by NewsLook.com
CDC Head Concerned About a Post-Antibiotic Era

CDC Head Concerned About a Post-Antibiotic Era

AP (July 22, 2014) Sounding alarms about the growing threat of antibiotic resistance, CDC Director Tom Frieden warned Tuesday if the global community does not confront the problem soon, the world will be living in a devastating post-antibiotic era. (July 22) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins