Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene

Müller, Kai Ivar; Nilssen, Øivind; Nebuchenykh, Maria; Løseth, Sissel; Jonsrud, Christoffer; Hoem, Gry; Ghelue, Marijke Van; Arntzen, Kjell Arne

doi:10.1016/j.nmd.2021.11.007

Cited by 5 publications

(2 citation statements)

References 19 publications

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“…Кореляція між кількістю повторів CAG і руховою недостатністю може становити лише 60 % спостережуваної клінічної гетерогенності, що вказує на наявність інших факторів: генетичних, епігенетичних або екологічних, що відіграють важливу роль у розвитку клінічного синдрому. Прикладом цього є наявність значної фенотипової варіабельності в межах однієї родини, незважаючи на однакову кількість повторів CAG [7]. Кореляційний аналіз між кількістю повторів CAG та електрофізіологічними індексами був непослідовним.…”

Section: спино-бульбарнаunclassified

Study of trinucleotide CAG-repeats expansion in androgen receptor gene among patients with suspected Kennedy’s syndrome

Tretiak,

Tyrkus,

Bakum

et al. 2023

Fakt. eksp. evol. org.

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Aim. To perform a molecular genetic study of CAG-repeat expansion in androgen receptor gene AR in individuals with suspected spinal and bulbar muscular atrophy (Kennedy’s syndrome). Methods. Clinical and genealogical, method of differential diagnosis, DNA isolation and purification, molecular genetic: polymerase chain reaction, electrophoresis in agarose gel. Results. A molecular genetic study of trinucleotide CAG-repeats expansion in androgen receptor gene in 30 people with suspected Kennedy’s syndrome was performed. In 5 probands of the study group, 38 CAG repeats (the upper limit of the norm) were established and in 27 examined patients, the number of CAG repeats did not exceed 37 (the norm). Among the examined group of patients, was found a family in which three men had 49 CAG repeats in the AR gene, which confirmed the presence of Kennedy’s syndrome. Conclusions. Kennedy’s syndrome is a rare X-linked recessive disease that requires the development of specific biomarkers to clarify the pathogenic process and facilitate early diagnosis.

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Section: спино-бульбарнаunclassified

Study of trinucleotide CAG-repeats expansion in androgen receptor gene among patients with suspected Kennedy’s syndrome

Tretiak,

Tyrkus,

Bakum

et al. 2023

Fakt. eksp. evol. org.

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“…SBMA primarily affects men ( Müller et al, 2021 ); studies of cell and mouse models of SBMA reveal the requirement for circulating testosterone for the emergence and progression of disease symptoms ( Katsuno et al, 2002 , 2003 ; Takeyama et al, 2002 ; Chevalier-Larsen et al, 2004 ; Sopher et al, 2004 ; Yu et al, 2006 ). Patients experience facial, tongue, and proximal muscle weakness that is accompanied by cramps, intention tremor, and fasciculations ( Dejager et al, 2002 ; Atsuta et al, 2006 ; Rhodes et al, 2009 ; Guber et al, 2018 ).…”

Section: Spinal and Bulbar Muscular Atrophymentioning

confidence: 99%

The role of ubiquitination in spinal and bulbar muscular atrophy

Sengupta

Pluciennik²,

Merry³

2022

Front. Mol. Neurosci.

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Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative and neuromuscular genetic disease caused by the expansion of a polyglutamine-encoding CAG tract in the androgen receptor (AR) gene. The AR is an important transcriptional regulator of the nuclear hormone receptor superfamily; its levels are regulated in many ways including by ubiquitin-dependent degradation. Ubiquitination is a post-translational modification (PTM) which plays a key role in both AR transcriptional activity and its degradation. Moreover, the ubiquitin-proteasome system (UPS) is a fundamental component of cellular functioning and has been implicated in diseases of protein misfolding and aggregation, including polyglutamine (polyQ) repeat expansion diseases such as Huntington’s disease and SBMA. In this review, we discuss the details of the UPS system, its functions and regulation, and the role of AR ubiquitination and UPS components in SBMA. We also discuss aspects of the UPS that may be manipulated for therapeutic effect in SBMA.

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Spinal and bulbar muscular atrophy: From molecular pathogenesis to pharmacological intervention targeting skeletal muscle

Marchioretti

Andreotti

Zuccaro

et al. 2023

Current Opinion in Pharmacology

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Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene

Cited by 5 publications

References 19 publications

Study of trinucleotide CAG-repeats expansion in androgen receptor gene among patients with suspected Kennedy’s syndrome

Study of trinucleotide CAG-repeats expansion in androgen receptor gene among patients with suspected Kennedy’s syndrome

The role of ubiquitination in spinal and bulbar muscular atrophy

Spinal and bulbar muscular atrophy: From molecular pathogenesis to pharmacological intervention targeting skeletal muscle

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