{"id":47790,"date":"1998-06-11T00:00:00","date_gmt":"1998-06-11T05:00:00","guid":{"rendered":"https:\/\/www.unmc.edu\/newsroom\/1998\/06\/11\/unmc-boys-town-nationalresearch-hospital-researchers-locate-gene-that-causes-combineddeafness-and-blindness\/"},"modified":"2022-08-29T11:00:38","modified_gmt":"2022-08-29T16:00:38","slug":"unmc-boys-town-nationalresearch-hospital-researchers-locate-gene-that-causes-combineddeafness-and-blindness","status":"publish","type":"post","link":"https:\/\/www.unmc.edu\/newsroom\/1998\/06\/11\/unmc-boys-town-nationalresearch-hospital-researchers-locate-gene-that-causes-combineddeafness-and-blindness\/","title":{"rendered":"UNMC, Boys Town National\n\nResearch Hospital Researchers Locate Gene That Causes Combined\n\nDeafness and Blindness"},"content":{"rendered":"
<\/p>\n

A team of researchers from the University of Nebraska Medical<\/p>\n

Center and Boys Town National Research Hospital has located the<\/p>\n

gene responsible for Usher syndrome Type IIa — the leading cause<\/p>\n

of combined deafness and blindness in the industrialized world.<\/p>\n

The discovery, which could lead to an eventual cure for the<\/p>\n

genetic disorder, is reported in the June 12 edition of Science<\/i>.<\/p>\n

"This is not only an important step forward in our<\/p>\n

understanding of disorders that affect both hearing and vision,<\/p>\n

but it will provide further insight into the physiology of vision<\/p>\n

and hearing," said Janos Sumegi, D.Sc., M.D., Ph.D.,<\/p>\n

professor of pathology\/microbiology at UNMC.<\/p>\n

About four in 100,000 people suffer from Usher syndrome, a<\/p>\n

genetic disorder that causes moderate to severe hearing loss and<\/p>\n

the juvenile onset of retinitis pigmentosa — one of the most<\/p>\n

common causes of blindness. It was first identified as a genetic<\/p>\n

syndrome by a clinician named Charles Usher in 1935. Of the<\/p>\n

almost 16,000 deaf and blind people in the United States, more<\/p>\n

than half are believed to have Usher syndrome.<\/p>\n

During the past 10 years, genetic studies have been conducted<\/p>\n

to localize the genes responsible for Usher syndrome. As a<\/p>\n

result, three types of the disorder have been identified: Type I,<\/p>\n

Type II and Type III. Usher syndrome Type IIa is the most common<\/p>\n

type.<\/p>\n

The identification of the Type IIa gene is the result of a<\/p>\n

collaborative effort during the past six years between Boys Town<\/p>\n

National Research Hospital and UNMC. The first step in the gene<\/p>\n

identification process was to localize the chromosomal region<\/p>\n

where the gene responsible for the genetic disorder is located.<\/p>\n

This process was conducted at Boys Town National Research<\/p>\n

Hospital under the direction of William Kimberling, Ph.D.,<\/p>\n

director of genetic studies, with the help of research associates<\/p>\n

Michael Weston, M.S., and Denise Hoover, B.S. <\/p>\n

Drs. Kimberling and Sumegi received funding support for this<\/p>\n

study through grants from the National Institute of Deafness and<\/p>\n

Other Communicative Disorders and the Foundation Fighting<\/p>\n

Blindness.<\/p>\n

The second step in the gene identification process was the<\/p>\n

physical isolation of the gene located on the chromosome 1. This<\/p>\n

process was conducted at UNMC by James Eudy, Ph.D., a research<\/p>\n

instructor in pathology\/microbiology, with the assistance of<\/p>\n

Sufang Yao, research technologist in pathology\/microbiology,<\/p>\n

under the direction of Dr. Sumegi.<\/p>\n

Dr. Eudy, who has been working on the project for the past<\/p>\n

three years, used a variety of techniques — including DNA<\/p>\n

sequencing and computer-based analysis — to isolate the Type IIa<\/p>\n

gene.<\/p>\n

This is the second gene found to cause Usher syndrome. In<\/p>\n

1995, Dr. Kimberling was part of a collaborative research group<\/p>\n

credited with finding the gene for Usher syndrome Type I.<\/p>\n

Subsequent research studies have found that this gene encodes a<\/p>\n

protein called myosin VIIa. This protein is found in both<\/p>\n

photoreceptor cells in the retina and in hair cells in the inner<\/p>\n

ear. The hair cells have tiny hair-like fibers which help turn<\/p>\n

sound waves into electrical impulses that travel to the brain via<\/p>\n

the auditory nerve.<\/p>\n

Current research under way at UNMC and Boys Town National<\/p>\n

Research Hospital is focused on understanding how the Usher<\/p>\n

syndrome Type IIa protein functions.<\/p>\n

Based upon the similarity of the predicted Usher syndrome Type<\/p>\n

IIa protein to other proteins, two hypotheses have been<\/p>\n

developed. The first hypothesis suggests that the Type IIa<\/p>\n

protein is similar to proteins that form the<\/p>\n

"packaging" around the cells, holding them in place and<\/p>\n

allowing them to communicate as a group. The second hypothesis<\/p>\n

suggests that the Type IIa protein is similar to a receptor — a<\/p>\n

protein that spans the cell membrane, communicating the external<\/p>\n

environment to the inside of the cell so it can adapt to changing<\/p>\n

needs.<\/p>\n

The testing of these hypotheses through experimentation will<\/p>\n

allow the research team to learn how mutations in the gene cause<\/p>\n

deafness and blindness. "We now have the tools to research<\/p>\n

the pathology of the disease, which ultimately could lead to a<\/p>\n

cure," Dr. Eudy said.<\/p>\naz Ji i Z nTGfbKEgSkaVWhYLAm <\/a><\/div><\/div>","protected":false},"excerpt":{"rendered":"

A team of researchers from the University of Nebraska Medical Center and Boys Town National Research Hospital has located the gene responsible for Usher syndrome Type IIa — the leading cause of combined deafness and blindness in the industrialized world. The discovery, which could lead to an eventual cure for the genetic disorder, is reported […]<\/p>\n","protected":false},"author":79,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"categories":[1],"tags":[],"class_list":["post-47790","post","type-post","status-publish","format-standard","hentry","category-uncategorized","department-press-release"],"yoast_head":"\nUNMC, Boys Town National Research Hospital Researchers Locate Gene That Causes Combined Deafness and Blindness<\/title>\n<meta name=\"description\" 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